Prof. Dr. Hülya KAYSERİLİ KARABEY | AVESİS

Akademik Veri Yönetim Sistemi

Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review

NUR B., Pehlivanoglu S., MIHÇI E., Caliskan M., Demir D., ALPER Ö., et al.

PEDIATRIC NEUROLOGY , cilt.50, sa.5, ss.482-490, 2014 (SCI-Expanded)

Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation

Guven Y., Altunoglu U., Aktoren O., Uyguner Z. O., Kayserili H., Kaewkahya M., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.57, sa.5, ss.240-246, 2014 (SCI-Expanded)

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome

Czeschik J. C., Albrecht B., Kayserili H., Kuechler A., Wagner N., Wieczorek D., et al.

CLINICAL DYSMORPHOLOGY , cilt.23, sa.2, ss.67-70, 2014 (SCI-Expanded)

Newly Described Clinical Features in Two Siblings With MACS Syndrome and a Novel Mutation in RIN2

Aslanger A. D., Altunoglu U., Aslanger E., Satkin B. N., Uyguner Z. O., Kayserili H.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.164, sa.2, ss.484-489, 2014 (SCI-Expanded)

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Novarino G., Fenstermaker A. G., Zaki M. S., Hofree M., Silhavy J. L., Heiberg A. D., et al.

SCIENCE , cilt.343, sa.6170, ss.506-511, 2014 (SCI-Expanded)

The genetic basis of DOORS syndrome: an exome-sequencing study

Campeau P. M., Kasperaviciute D., Lu J. T., Burrage L. C., Kim C., Hori M., et al.

LANCET NEUROLOGY , cilt.13, sa.1, ss.44-58, 2014 (SCI-Expanded)

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

Murray J. E., Bicknell L. S., Yigit G., Duker A. L., van Kogelenberg M., Haghayegh S., et al.

HUMAN MUTATION , cilt.35, sa.1, ss.76-85, 2014 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Wieczorek D., Boegershausen N., Beleggia F., Steiner-Haldenstaett S., Pohl E., Li Y., et al.

HUMAN MOLECULAR GENETICS , cilt.22, sa.25, ss.5121-5135, 2013 (SCI-Expanded)

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Halbritter J., Bizet A. A., Schmidts M., Porath J. D., Braun D. A., Gee H. Y., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.93, sa.5, ss.915-925, 2013 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Dimopoulou A., Fischer B., Gardeitchik T., Schroeter P., Kayserili H., Schlack C., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.110, sa.3, ss.352-361, 2013 (SCI-Expanded)

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

Iida A., Iida A., Simsek-Kiper P. O., Simsek-Kiper P. O., Mizumoto S., Mizumoto S., et al.

HUMAN MUTATION , cilt.34, sa.10, ss.1381-1386, 2013 (SCI-Expanded)

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Symoens S., Malfait F., D'hondt S., Callewaert B., Dheedene A., Steyaert W., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.8, 2013 (SCI-Expanded)

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI.

KANTAPUTRA P. N., KAYSERİLİ H., GÜVEN Y., KANTAPUTRA W., BALCI M. C., Tanpaiboon P., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.56, ss.10-20, 2013 (SCI-Expanded)

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

Czeschik J. C., Voigt C., ALANAY Y., Albrecht B., Avci S., FitzPatrick D., et al.

HUMAN GENETICS , cilt.132, sa.8, ss.885-898, 2013 (SCI-Expanded)

Mutations in WNT1 cause different forms of bone fragility.

KEUPP K., BELEGGIA F., KAYSERILI H., BARNES A., STEINER M., SEMLER O., et al.

American journal of human genetics , cilt.92, ss.565-74, 2013 (SCI-Expanded)

Developing a policy for paediatric biobanks: principles for good practice.

Henz K., Van El C., Borry P., Cambom Thomsen A., Cornel M., Forzano F., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.21, sa.1, ss.2-7, 2013 (SCI-Expanded)

A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family.

Dinçkan N., GÜVEN Y., KAYSERİLİ H., AKTÖREN O., UYGUNER Z. O.

ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY , cilt.11, sa.4, ss.42-46, 2012 (SCI-Expanded)

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Novarino G., El-Fishawy P., Kayserili H., Meguid N. A., Scott E. M., Schroth J., et al.

SCIENCE , cilt.338, sa.6105, ss.394-397, 2012 (SCI-Expanded)

Down Syndrome Diagnosis Based on Gabor Wavelet Transform

Saraydemir S., TAŞPINAR N., Erogul O., Kayserili H., Dinckan N.

JOURNAL OF MEDICAL SYSTEMS , cilt.36, sa.5, ss.3205-3213, 2012 (SCI-Expanded)

Goldenhar syndrome : a new case expanding the phenotype by costal agenesis and pulmonary hypoplasia

Çekmez F., İnce E., Çoban A., Yıldırım S., Bulut E., KAYSERİLİ H.

Eur Rev Med Pharmacol , cilt.16, sa.9, ss.1307-1308, 2012 (SCI-Expanded)

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.

Solomon B., Bear K., Wyllie A., Keaton A., Dubourg C., David V., et al.

JOURNAL OF MEDICAL GENETICS , cilt.49, sa.7, ss.473-479, 2012 (SCI-Expanded)

A large duplication involving the IHH locus mimics acrocallosal syndrome

Yuksel-Apak M., Boegershausen N., Pawlik B., Li Y., Apak S., Uyguner O., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.20, sa.6, ss.639-644, 2012 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.

Bonnard C., Strobl A., Shboul M., Lee H., Merriman B., Nelson S., et al.

NATURE GENETICS , cilt.44, sa.6, ss.709-713, 2012 (SCI-Expanded)

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Otto E. A., Ramazwami G., Janssen S., Chaki M., Allen S. J., Zhou W., et al.

JOURNAL OF MEDICAL GENETICS , cilt.48, sa.2, ss.105-16, 2011 (SCI-Expanded)

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

Iannicelli M., Brancati F., Mougou-Zerelli S., Mazzota A., Elkhartoufi N., Thomas S., et al.

Hum Mutat , cilt.31, sa.5, ss.1319-1331, 2010 (SCI-Expanded)

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Hucthagowder V., Morava E., Kornak U., Lefeber D. J., Fischer B., Dimopoulou A., et al.

HUMAN MOLECULAR GENETICS , cilt.18, sa.12, ss.2149-2165, 2009 (SCI-Expanded)

Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome.

Üzümcü A., Candan Ş., Toksoy G., UYGUNER Z. O., KARAMAN B., Eriş H., et al.

journal genet BMC GENOMICS , cilt.36, sa.4, ss.251-6, 2009 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

Craniodentofacial manifestations in Hallerman-Streiff Syndrome.

TUNA İNCE E. B., SÜLÜN T., KAYSERİLİ H., AKTÖREN O.

The Journal of Craniomandibular Practice , cilt.27, sa.1, ss.33-38, 2009 (SCI-Expanded)

Orodental findings of a family with lacrimo-auriculo-dento-digital (LADD) syndrome

GÜVEN Y., Rosti R. Ö., TUNA İNCE E. B., KAYSERİLİ H., AKTÖREN O.

ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY , cilt.106, ss.33-44, 2008 (SCI-Expanded)

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.

KAYSERİLİ H., Van Maldergem L.

Hum Genet , cilt.11, sa.71, ss.1602-1608, 2008 (SCI-Expanded)

Orodental findings of Lacrimo-Auriculo-Dento-Digital (LADD) Syndrome.

GÜVEN Y., TUNA İNCE E. B., KAYSERİLİ H., AKTÖREN O.

Oral Med Oral Pathol Oral Radio , cilt.106, sa.6, ss.33-40, 2008 (SCI-Expanded)

Angelman syndrome: clinical findings and follow-up data of 14 patients

Kara B., Karaman B., Ozmen M., Rosti R. O., Caliskan M., Kayserili H., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.50, sa.2, ss.137-142, 2008 (SCI-Expanded)

CYP21 gene mutations in congenital adrenal hyperplasia: Genotype-phenotype correlation in Turkish children

Bas F., Darendeliler F. F., Kayserili H., Uyguner O., Wollnik B., Saka N., et al.

HORMONE RESEARCH , cilt.70, ss.156-157, 2008 (SCI-Expanded)

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.

Kalay E., Üzümcü A., Krieger E., Caylan R., UYGUNER Z. O., Ulubil-Emiroğlu M., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS , cilt.15, ss.2382-9, 2007 (SCI-Expanded)

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

Kalay E., Li Y., Üzümcü A., UYGUNER Z. O., Karagüzel a., Becker C., et al.

HUMAN MUTATION , cilt.27, ss.633-9, 2006 (SCI-Expanded)

The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey

KARAMAN B., Aytan M., Yılmaz K., Toksoy G., Önal E. P., Ghanbari A., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.49, sa.3, ss.207-14, 2006 (SCI-Expanded)

18q deletion syndrome associated with autoimmune thyroid disease presenting as hyperthyroidism

Tütüncüler F., Darendeliler F. F., Günöz H., Karaman B., Kayserili H.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.18, sa.4, ss.419-420, 2005 (SCI-Expanded)

Gender assignment in female congenital adrenal hyperplasia: a difficult experience

Ozbey H., Darendeliler F. F., Kayserili H., Korkmazlar U., Salman T.

BJU INTERNATIONAL , cilt.94, sa.3, ss.388-391, 2004 (SCI-Expanded)

Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS).

KAYSERİLİ H., Cox T. C., Cox L. L., BAŞARAN S., Kılıç G., Ballabio A., et al.

Journal medical genetics , cilt.37, ss.411-7, 2001 (SCI-Expanded)

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)

Revy P., Muto T., Levy Y., Geissmann F., Plebani A., Sanal O., et al.

CELL , cilt.102, sa.5, ss.565-575, 2000 (SCI-Expanded)

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

van Bokhoven H., Celli J., Kayserili H., van Beusekom E., Balci S., Brussel W., et al.

NATURE GENETICS , cilt.25, sa.4, ss.423-426, 2000 (SCI-Expanded)

Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation

Nuytinck L., Tukel T., Kayserili H., Apak M., De Paepe A.

JOURNAL OF MEDICAL GENETICS , cilt.37, sa.5, ss.371-375, 2000 (SCI-Expanded)

Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients

Savas S., Gokgoz N., Kayserili H., Ozkinay F., Yuksel-Apak M., Kirdar B.

HUMAN HEREDITY , cilt.50, sa.3, ss.162-165, 2000 (SCI-Expanded)

A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patient

Tadmouri G., Bilenoglu O., Kantarci S., Kayserili H., Perrin P., Basak A.

AMERICAN JOURNAL OF HEMATOLOGY , cilt.63, sa.4, ss.223-225, 2000 (SCI-Expanded)

Beckwith Wiedemann sendromlu 8 olguda klinik yaklaşım ve izlem süreci

BAŞ F., KAYSERİLİ H., DARENDELİLER F. F., TÜKEL T., BUNDAK R., KABATAŞ ERYILMAZ S., et al.

İstanbul Tıp Dergisi , cilt.63, sa.2, ss.181-187, 2000 (SCI-Expanded)

17 beta-hydroxysteroid dehydrogenase-3 deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations

Boehmer A., Brinkmann A., Sandkuijl L., Halley D., Niermeijer M., Andersson S., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM , cilt.84, sa.12, ss.4713-4721, 1999 (SCI-Expanded)

Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)

ERASLAN S., Kayserili H., Apak M., KIRDAR B.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.7, sa.7, ss.765-770, 1999 (SCI-Expanded)

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

Van Kuilenburg A., Vreken P., Abeling N., Bakker H., Meinsma R., Van Lenthe H., et al.

HUMAN GENETICS , cilt.104, sa.1, ss.1-9, 1999 (SCI-Expanded)

Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene

ONAY T., KAYSERİLİ H., Yüksel Apak M., KIRDAR B.

CLINICAL GENETICS , cilt.55, sa.1, ss.63-64, 1999 (SCI-Expanded)

Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11

Dutly F., Baumer A., Kayserili H., Yuksel-Apak M., Zerova T., Hebisch G., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS , cilt.79, sa.5, ss.347-353, 1998 (SCI-Expanded)

Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)

ONAY T., TOPALOĞLU Ö., ZIELENSKI J., GÖKGÖZ N., Kayserili H., Camcioglu Y., et al.

HUMAN GENETICS , cilt.102, sa.2, ss.224-230, 1998 (SCI-Expanded)

Diğer Dergilerde Yayınlanan Makaleler

SENDROMİK VE NON-SENDROMİK KRANİYOSİNOSTOZ OLGULARINDA FGFR1-3, TWIST1, MSX2, POR, FREM1 VE RAB23 GENLERİNİN MOLEKÜLER ANALİZİ

Karaman V., TOKSOY G., KARAMAN B., KAYSERİLİ KARABEY H., BAŞARAN S., ALTUNOĞLU U., et al.

İSTANBUL TIP FAKÜLTESİ DERGİSİ , cilt.82, sa.2, ss.9-10, 2019 (Hakemli Dergi)

Türk Noonan Sendromlu Hastalarda Genotip Fenotip İlişkisi

Altunoğlu U., Denmeyer E., Rosti R. Ö., KARAMAN B., KAYSERİLİ H.

TÜRKİYE KLİNİKLERİ PEDİATRİ DERGİSİ , cilt.18, sa.3, ss.174-80, 2009 (Scopus)

Mandibuloakral displazi: Vaka sunumu ve laminopatilere genel bakış

Pehlivan D., BAŞ F., Rosti R. Ö., DARENDELİLER F. F., KAYSERİLİ H.

ÇOCUK DERGİSİ , cilt.8, sa.4, ss.251-256, 2008 (Hakemli Dergi)

Down Sendromlu 1416 Postnatal Olgunun Kromozom Analiz Sonuçları

KARAMAN B., Öztürk H., Yılmaz K., BAŞARAN S., KAYSERİLİ H., Yüksel Apak M.

Çocuk Kliniği Dergisi , cilt.7, ss.15-17, 2007 (Hakemli Dergi)

Frajil-X Sendromu Tanısında 20 Yıllık Süreçteki Gelişmeler ve Deneyimlerimiz

KAYSERİLİ H., Tükel T., KARAMAN B., UYGUNER Z. O., Rosti R. Ö., Açarsöz D., et al.

Çocuk Kliniği ANADOLU KARDIYOLOJI DERGISI-THE ANATOLIAN JOURNAL OF CARDIOLOGY , cilt.7, ss.18-22, 2007 (Hakemli Dergi)

Gebelikte trizomi 21 ve 18 için biokimyasal tarama testleri

BAŞARAN S., KARAMAN B., Öztürk H., Yılmaz K., Tükel T., KAYSERİLİ H., et al.

Çocuk Kliniği Dergisi , cilt.7, ss.10-14, 2007 (Hakemli Dergi)

Kuşkulu genitalyalı 103 hastanın etyoloji, tanı ve cinsel kimlik açısından değerlendirilmesi

DARENDELİLER F. F., BAŞ F., Saka H. N., KAYSERİLİ H., Apak M., Karaaslan N., et al.

KLİNİK GELİŞİM , cilt.13, ss.109-114, 2000 (Hakemli Dergi)

Genetik Hastalıkların Prenatal Tanısı, 1995–1997 yıllarındaki uygulama ve araştırmalarımızın sonuçları

Yüksel Apak M., BAŞARAN S., Aydınlı K., KAYSERİLİ H., KARAMAN B., Açarsöz D., et al.

İst. Tıp Fakültesi Mecmuası , cilt.62, sa.4, ss.354-362, 1999 (Hakemli Dergi)

Duchenne Kas Distrofisi İçin Riskli Ailelerde Taşıyıcılığın Belirlenmesi ve Prenatal Tanı Uygulamalarında Karşılaşılan Sorunlar

KAYSERİLİ H., Açarsöz D., Gökgöz N., BAŞARAN S., KARAMAN B., Kırdar B., et al.

İstanbul Çocuk Kliniği Dergisi , cilt.30, ss.200-206, 1995 (Hakemli Dergi)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

The Application of array CGH for Monogenic Disorders; Clinical and Molecular Cytogenetic Characterization of Twenty Patients.

KARAMAN B., NAJAFLı A., Toksoy G., KAYSERİLİ KARABEY H., BAŞARAN S.

European Cytogenetic Conference, Floransa, İtalya, 29 Haziran - 02 Temmuz 2017, ss.8

Familial Microdeletion of 3 Mb at 22q11.2 With Unusual Phenotype

Toksoy G., Satkın B. N., KAYSERİLİ H., KARAMAN B., BAŞARAN S.

European Cytogenetic Conference, İrlanda, 1 - 04 Haziran 2013, ss.69

Molecular Test Results of Syndromic Craniosynostosis Patients:genotype-phenotype correlations

Karaman V., Altunoğlu U., Toksoy G., KARAMAN B., KAYSERİLİ H., UYGUNER Z. O.

European Human Genetic Congress, Fransa, 1 - 04 Haziran 2013, ss.99

Array-CGH Findings of de novo Apparently Balanced Chromosomal Rearrangements in Phenotypically Affected 20 Cases

KARAMAN B., Satkın B. N., KAYSERİLİ H., BAŞARAN S.

European Cytogenetic Conference, İrlanda, ss.122

A novel molecular and functional mechanism predisposing to ototoxicity

American Society of Human Genetics 62nd Annual Meeting, Amerika Birleşik Devletleri, 1 - 04 Ekim 2012, ss.10-15

Konjenital Eritropoietik Porfiride Eritrodonti:Bir Olgu Raporu

AKTÖREN O., KAYSERİLİ H., GÜVEN Y.

19.Türk Pedodonti Derneği Kongresi, Antalya, Türkiye, 1 - 04 Ekim 2012, ss.163

Next generation sequencing detects mutations in ISPD as a common cause of Walker-Warburg syndrome with defective glycosylation of adystroglycan

American Society of Human Genetics 62nd Annual Meeting, Amerika Birleşik Devletleri, 1 - 04 Ekim 2012, ss.48-9

DYNC2H1 mutations are commonly found in Juene Asphyxating Thoracic Dyspilasia (JATD) without extraskeletal features while IFT140 mutations cause JATD with renal involvement

American Society of Human Genetics 62nd Annual Meeting, Amerika Birleşik Devletleri, 1 - 04 Ekim 2012, ss.23-24

Continuun from monogenic to polygenic and multifactorial disease

P4 Predictive Preventive Personalized Participatory Mediicine Meeting, Türkiye, 1 - 04 Eylül 2012, ss.3-6

Further molevular characterization of PYCR1-related cutis laxa

European Human Genetics Conferance, Almanya, 1 - 04 Haziran 2012, ss.60-61

Increased sensitivity to DNA damage in a recessive form of Weawer syndrome caused by functional loss of an E3 ubiquitin ligase

European Human genetics Conference 2012, Almanya, 1 - 04 Haziran 2012, ss.3-5

Mutation in RIPK4 that encodes Receptor-Interacting Serine/Threonine Kinase Protein 4 couse the autosomal recessive form of popliteal ptertgium syndrome

European Human Genetics Conferance, Almanya, 1 - 04 Haziran 2012, ss.45-46

Novel c.1731delC mutation in RIN2 gene in two Turkish siblings with MACS/RIN2 syndrome

European Human Genetics Conference, Almanya, 1 - 04 Haziran 2012, ss.57-58

Indications for Fetal Karyotyping and Ultrasonographic Findings in Common Trisomies; Alterations in over 2 Decades

Başaran S., Karaman B., Aytan M., Toksoy G., Kalelioğlu İ. H., Has R., et al.

European Human Genetics Congress 2012, Nuremberg, Almanya, 23 - 26 Haziran 2012, ss.147-148

Chromosomal Imbalances in Holoprosencephaly Sequence; Results of 87 Cases Diagnosed Prenatally

KARAMAN B., Satkın B. N., Kalelioğlu İ. H., HAS R., KAYSERİLİ H., Ermiş H., et al.

European Human Genetic Congress, Almanya, ss.148-149

The Efficiency Of Multiplex Ligation-Dependent Probe AmplificationTechnique In The Diagnosis Of Fetal Chromosomal Abnormalities

Toksoy G., Karaman B., Uyguner Z. O., Yılmaz K., Has R., Kayserili H., et al.

European Human Genetics Conference 2012, Nuremberg, Almanya, 23 - 26 Haziran 2012, ss.150

Array-CGH results in fetuses with central nervous system

Ergin S., KARAMAN B., Satkın B. N., Kalelioğlu İ. H., KAYSERİLİ H., YÜKSEL A., et al.

European Human Genetic Congress, Almanya, ss.144

How toapproach lissencephaly/subcortical band heterotopia spectrum.

Aslanger A. D., Toksoy G., Kayserili Karabey H., Karaman B., Başaran S., Uyguner Z. O.

9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, İstanbul, Türkiye, 1 - 05 Aralık 2010, cilt.78, ss.13

CLINICAL AND ULTRASONOGRAPHIC FINDINGS OF FETUSES WITH TRISOMY 21, 18 AND 13 CASES DIAGNOSED PRENATALLY IN AMNIOTIC FLUID SAMPLES. FROM JANUARY 1989 TO JULY 2010, 142 TRISOMY 21, 39 TRISOMY 18, 12 TRISOMY 13 CASES WERE DIAGNOSED IN AMNIOTIC FLUID SAMPLES

Satkın B. N., Kalelioğlu İ. H., KARAMAN B., HAS R., KAYSERİLİ H., Aydınlı K., et al.

Tıbbi Genetik Kongresi, İstanbul, Türkiye, ss.104-105

Novel P.D419Y Mutation in SH3P2 Gene Cause Cherubism in a Turkish Family.

AKTÖREN O., KAYSERİLİ H., GÜVEN Y.

9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, İstanbul, Türkiye, 1 - 04 Aralık 2010, ss.18-19

A novel molecular and functional mechanism predisposing to ototoxicity

Pohl E., Offenhauser N., Kersten F., Üzümcü A., Yun L., KAYSERİLİ H., et al.

European Human Genetic Congress, Almanya, 1 - 04 Mayıs 2010, ss.5

Girl with left hemiatrophy reveals confined mosaicisms for r(13)in fibroblasts

Altunoğlu U., KARAMAN B., BAŞARAN S., KAYSERİLİ H.

European Human Genetic Congress, Avusturya, ss.125

Investigation of CYFIP1 and CYFIP2 genes in patients with autosomal recessive non-syndromic mental retardation

Güven G., KAYSERİLİ H., Üzümcü A., Eriş H., KARAMAN B., BAŞARAN S., et al.

European Human Genetics, İspanya, ss.271

Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method

Semerci C. N., Tufan Şatıroğlu L., Bereket A., TÜYSÜZ B., Yılmaz E., KAYSERİLİ H., et al.

European Cytogenetic Conference, Türkiye, 1 - 04 Temmuz 2007, ss.125

Dicentric chromosome 22 causing partial trisomy of 22q10Yq13 in a child with Cat Eye syndrome phenotype

Demir Z., KARAMAN B., KAYSERİLİ H., Yüksel Apak M., BAŞARAN S.

European Cytogenetic Conference, Türkiye, ss.61

A case of monosomy 8p23.3Yter and trisomy 16p13.3Yter; cytogenetic, molecular cytogenetic and clinical findings

Candan Ş., KARAMAN B., KAYSERİLİ H., Kırmızı N., BAŞARAN S.

European Cytogenetic Conference, Türkiye, ss.96

Orodental findings of lacrimo-auriculo-dento-digital(LADD) syndrome

GÜVEN Y., Rosti R. Ö., TUNA İNCE E. B., KAYSERİLİ H., AKTÖREN O.

12th. Congress of the Balkan Stomatological Society (BASS), Türkiye, ss.143-144

Identification of parental origins and delineation of structural abnormalities involving chromosome 9

Uzumcu A., Ghanbari A., Karaman B., Uyguner Z. O., Kayserili H., Wollnik B., et al.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.261

Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method

Semerci C. N., Satiroglu-Tufan N. L., Turan S., Bereket A., Tuysuz B., Yilmaz E., et al.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.125-126

Notch3 mutations in two Turkish families with CADASIL syndrome

SİVA A., Altintas A., SAİP S., UYGUNER Z. O., Kayserili H., Eskazan E., et al.

56th Annual Meeting of the American-Academy-of-Neurology, San-Francisco, Kostarika, 24 Nisan - 01 Mayıs 2004, cilt.62

Cockayne Sendromu: 2 Olgu Bildirimi

PINAR ERDEM A., ÜSTÜN A., SEPET E., KAYSERİLİ H.

Türk Pedodonti Derneği 13. Ulusal Kongresi, Muğla, Türkiye, ss.29

Kitap & Kitap Bölümleri

Tıbbi Genetik

KAYSERİLİ H., BAŞARAN S., KARAMAN B., UYGUNER Z. O.

Pediatride Rutinler, ömer devecioğlu, Editör, İstanbul Tıp Kitabevi, İstanbul, ss.300-305, 2014

Konjenital Adrenal Hiperplazi; Moleküler Tanı, Fenotip/Genotip Korelasyonu ve Antenatal İzlem Deneyimlerimiz (1990-2009).

Kayserili H., Uyguner Z. O., Karaman B., Başaran S.

Endokrinoloji Diyabet Yıllığı, Yarman S,Alagöl F., Editör, İstanbul Tıp Fakültesi, İstanbul, ss.103-113, 2012 Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

Ekstremite Anomalileri

KALELİOĞLU İ. H., YAŞA C., KAYSERİLİ KARABEY H.

Obstetrik ve Jinekolojide Ultrason, Özden S, Editör, Doğan Tıb Kitabevi, İstanbul, ss.336-358, 2009

Metrikler

Yayın

94

Atıf (WoS)

2954

H-İndeks (WoS)

18

Atıf (Scopus)

2905

H-İndeks (Scopus)

18

Proje

16

BM Sürdürülebilir Kalkınma Amaçları