SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
<i>PROKR2</i> Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
, cilt.15, sa.4, ss.338-347, 2023 (SCI-Expanded)
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
Journal of clinical research in pediatric endocrinology
, cilt.14, sa.2, ss.153-171, 2022 (SCI-Expanded)
Two cases with central precocious puberty caused by paternally inherited novel variants in DLK1gene
EUROPEAN JOURNAL OF HUMAN GENETICS
, sa.SUPPL 1, ss.213, 2020 (SCI-Expanded)
A case report of a rare nonsense ZP1 variant in a patient with oocyte maturation defect
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.28, sa.SUPPL 1, ss.155-156, 2020 (SCI-Expanded)
Array-CGH Analizlerinde Saptanan De Novo Değişimlere Klinik Genetik Yaklaşım
Gazi Medical Journal
, cilt.30, sa.4, ss.361-364, 2019 (SSCI)
Genetic Evaluation of Idiopathic Short Stature
HORMONE RESEARCH IN PAEDIATRICS
, cilt.91, ss.323, 2019 (SCI-Expanded)
OriginalArticleClinicalandGeneticInvestigationofPrematureOvarianInsufficiencyCasesfromTurkey
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
, cilt.1580, ss.1-7, 2019 (SCI-Expanded)
NORMAL KARYOTİPLİ PATOLOJİK ULTRASON BULGUSU OLAN FETUSLARDA MLPA (MULTİPLEX LİGATİON-DEPENDENT PROBE AMPLİFİCATİON) UYGULAMALARI
İstanbul Tıp Dergisi
, cilt.82, sa.1, ss.2-3, 2019 (SCI-Expanded)
Clinical, Laboratory and Molecular Genetic Findings of Patients with 17 beta-Hydroxysteroid Dehydrogenase 3 Deficiency
HORMONE RESEARCH IN PAEDIATRICS
, cilt.90, ss.562, 2018 (SCI-Expanded)
Evaluation of Three Patients with 46,XY Gonadal Dysgenesis due to Desert Hedgehog Gene Mutations
HORMONE RESEARCH IN PAEDIATRICS
, cilt.90, ss.558-559, 2018 (SCI-Expanded)
Evaluation of Genetic Etiology in Patients with 46,XY Disorders of Sex Development: One Center Experience
HORMONE RESEARCH IN PAEDIATRICS
, cilt.90, ss.542, 2018 (SCI-Expanded)
Copy-Number Variations of the Human Olfactory Receptor Gene Family in Patients with Macromastia and Prepubertal Gynecomastia
HORMONE RESEARCH IN PAEDIATRICS
, cilt.90, ss.560, 2018 (SCI-Expanded)
The Role of Mosaicism in Discordant cf DNA Testing Results
MOLECULAR CYTOGENETICS
, cilt.10, 2017 (SCI-Expanded)
False positive and false negative results of cell free DNA testing
CHROMOSOME RESEARCH
, cilt.23, 2015 (SCI-Expanded)
Familial Microdeletion of 3 Mb at 22q11.2 With Unusual Phenotype
CHROMOSOME RESEARCH
, cilt.21, 2013 (SCI-Expanded)
Haploinsufficiency of SHH gene caused by deletion of 7q36 -> qter: holoprosencephaly sequence in 5 cases
CHROMOSOME RESEARCH
, cilt.19, 2011 (SCI-Expanded)
Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome.
journal genet BMC GENOMICS
, cilt.36, sa.4, ss.251-6, 2009 (SCI-Expanded)
CYP21 gene mutations in congenital adrenal hyperplasia: Genotype-phenotype correlation in Turkish children
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.
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.
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
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.49, sa.3, ss.207-14, 2006 (SCI-Expanded)
49. Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families
PRENATAL DIAGNOSIS
, cilt.22, ss.703-9, 2002 (SCI-Expanded)
Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS).
Journal medical genetics
, cilt.37, ss.411-7, 2001 (SCI-Expanded)
Identification of de novo structural chromosome abnormalities using "Chromoprobe Multiprobe" slide technique
CYTOGENETICS AND CELL GENETICS
, cilt.85, ss.44, 1999 (SCI-Expanded)
Gametogenesis, preimplantation and prenatal diagnosis
CYTOGENETICS AND CELL GENETICS
, cilt.85, ss.45, 1999 (SCI-Expanded)
Increased risk in second trimester triplet test and cytogenetic findings in amniotic fluid samples
CYTOGENETICS AND CELL GENETICS
, cilt.85, ss.45, 1999 (SCI-Expanded)
A familial Xp plus associated with short stature syndrome
CYTOGENETICS AND CELL GENETICS
, cilt.85, ss.152-153, 1999 (SCI-Expanded)
A case of mental retardation associated with a partial tetrasomy of chromosome 15
CYTOGENETICS AND CELL GENETICS
, cilt.85, ss.159, 1999 (SCI-Expanded)
Prenatal diagnosis in IVF pregnancies: An indication for preimplantation genetics?
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.6, ss.135, 1998 (SCI-Expanded)
The identification of de novo structural chromosome abnormalities by FISH.
CYTOGENETICS AND CELL GENETICS
, cilt.77, 1997 (SCI-Expanded)
ROBERTSONIAN TRANSLOCATIONS BETWEEN HOMOLOGOUS CHROMOSOMES ARE SOMATIC EVENTS
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.53, sa.3, ss.121, 1993 (SCI-Expanded)
A FAMILIAL CASE OF PARTIAL TRISOMY 2Q31-]2Q35 SECONDARY TO A PATERNAL COMPLEX DOUBLE TRANSLOCATION INVOLVING 4-CHROMOSOMES WITH 6-BREAKPOINTS
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.49, sa.4, ss.256, 1991 (SCI-Expanded)
A CONSTITUTIONAL REARRANGEMENT IN SPERMS, NOT INVOLVING CHROMOSOME-21, DOES NOT PREDISPOSE TO TRISOMY-21
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.49, sa.4, ss.306, 1991 (SCI-Expanded)
A CASE OF PARTIAL TRISOMY - 8Q AND MONOSOMY 2Q-DUE TO A PATERNAL TRANSLOCATION
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.49, sa.4, ss.255, 1991 (SCI-Expanded)
Diğer Dergilerde Yayınlanan Makaleler
CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, cilt.85, sa.4, ss.501-510, 2022 (Scopus)
HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, cilt.84, sa.2, ss.186-191, 2021 (ESCI)
NOONAN SENDROMU’NUN PRENATAL TANISINDA PTPN11 GEN ANALİZLERİNİN ETKİNLİĞİ
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, cilt.84, sa.1, ss.34-39, 2021 (ESCI)
SENDROMİK VE NON-SENDROMİK KRANİYOSİNOSTOZ OLGULARINDA FGFR1-3, TWIST1, MSX2, POR, FREM1 VE RAB23 GENLERİNİN MOLEKÜLER ANALİZİ
İSTANBUL TIP FAKÜLTESİ DERGİSİ
, cilt.82, sa.2, ss.9-10, 2019 (Hakemli Dergi)
CLINICAL CLASSIFICATION OF RADIAL RAY DEFECTS AND RESEARCH INTO ETIOPATHOGENESIS
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, cilt.81, sa.4, ss.127-138, 2018 (ESCI)
Türkiye’de Prenatal Tanının Tarihçesi
Türkiye kLİNİKLERİ
, 2018 (Hakemli Dergi)
Prenatal Tanıda Konvansiyonel Sitogenetik, Mikro-array ve diğer Yeni nesil teknolojiler
Türkiye Klinikleri
, cilt.10, sa.1, ss.58-62, 2017 (Hakemli Dergi)
Erişkin Yaşta görülen Genetik Hastalıklara Yaklaşım
Türkiye Klinikleri
, cilt.2, sa.3, ss.137-141, 2017 (Hakemli Dergi)
Non-Mosaic Tetrasomy 9p in An Infant With Multiple Congenital Anomalies
Gynecology Obstetrics & Reproductive Medicine
, cilt.13, sa.2, ss.114-116, 2007 (Hakemli Dergi)
Down Sendromlu 1416 Postnatal Olgunun Kromozom Analiz Sonuçları
Çocuk Kliniği Dergisi
, cilt.7, ss.15-17, 2007 (Hakemli Dergi)
Gebelikte trizomi 21 ve 18 için biokimyasal tarama testleri
Çocuk Kliniği Dergisi
, cilt.7, ss.10-14, 2007 (Hakemli Dergi)
Frajil-X Sendromu Tanısında 20 Yıllık Süreçteki Gelişmeler ve Deneyimlerimiz
Çocuk Kliniği ANADOLU KARDIYOLOJI DERGISI-THE ANATOLIAN JOURNAL OF CARDIOLOGY
, cilt.7, ss.18-22, 2007 (Hakemli Dergi)
Roberts - SC fokomeli sendromunun prenatal tanısı: Olgu sunumu
Perinatoloji Dergisi
, cilt.14, sa.4, ss.202-204, 2006 (Hakemli Dergi)
Genetik Amniyosentezde Abortusu Etkileyen Faktörler: 1573 Olgunun Analizi
JİNEKOLOJİ VE OBSTETRİK DERG.
, cilt.15, ss.140-150, 2001 (Hakemli Dergi)
Genetik Hastalıkların Prenatal Tanısı, 1995–1997 yıllarındaki uygulama ve araştırmalarımızın sonuçları
İst. Tıp Fakültesi Mecmuası
, cilt.62, sa.4, ss.354-362, 1999 (Hakemli Dergi)
Üriner Sistemin Konjenital Anomalilerinin Prenatal Teşhis ve Tedavi Kriterleri
Jinekoloji ve Obstetrik Dergisi
, sa.2, ss.161-172, 1998 (Hakemli Dergi)
Koryon villus biopsisi deneyimlerimiz: invazif girişimler, sitogenetik sonuçlar ve fetal akıbetler
TÜRKİYE KLİNİKLERİ JİNEKOLOJİ OBSTETRİK DERGİSİ
, cilt.6, sa.6, ss.6-17, 1996 (Scopus)
Aniridi-Wilms Tümörü Assosiyasyonu (AWTA) Gösteren Bir Olgu
Türkiye Klinikleri Oftalmoloji Dergisi
, cilt.5, sa.1, ss.47-49, 1996 (Hakemsiz Dergi)
Duchenne Kas Distrofisi İçin Riskli Ailelerde Taşıyıcılığın Belirlenmesi ve Prenatal Tanı Uygulamalarında Karşılaşılan Sorunlar
İstanbul Çocuk Kliniği Dergisi
, cilt.30, ss.200-206, 1995 (Hakemli Dergi)
Amniotik Sıvı, Trofoblast Dokusu ve Fetal Kan Örneğinde Sitogenetik İncelemeler: 527 Olguluk Serinin Sonuçları
JİNEKOLOJİ VE OBSTETRİK DERG.
, cilt.6, sa.2, ss.81-89, 1990 (Hakemli Dergi)
Transabdominal Korion Villus Biopsisi Hızlı Karyotip Tayini için Alternatif Bir Yöntem
Jinekoloji ve Obstetrik Dergisi
, sa.3, ss.23-28, 1989 (Hakemli Dergi)
Korion Villus Biopsisi İle İlk Deneyimlerimiz ve Sitogenetik Sonuçları
Jinekoloji ve Obstetrik Dergisi
, sa.3, ss.18-22, 1989 (Hakemli Dergi)
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar
Birden Fazla Etkilenmiş Olgu Bulunan Ailelerde Tüm Ekzom Dizileme Yönteminin Tanıdaki Etkinliği
15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Türkiye, 9 - 13 Kasım 2022, ss.116
Prenatal Diagnosis Of 1P36 Deletion Syndrome Due To Pericentric Inversion On Chromosome 1: A Case Report
15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Türkiye, 9 - 13 Kasım 2022, ss.25
Kardiyak Anomalili Fetuslarda Konvansiyonel Genetik Tanı Testlerinin Etkinliği
15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Türkiye, 9 - 13 Kasım 2022, ss.26
Türkiye’deki olgu örneklerinde SARS-CoV-2 enfeksiyonunda rol alan aday immünite gen varyantlarının incelenmesi ve popülasyonlar arasında karşılaştırılması
XVII. Tıbbi Biyoloji ve Genetik Kongresi, İstanbul, Türkiye, 28 - 31 Ekim 2021, ss.166-167
Evaluation of early puberty in boys and girls with Silver-Russell Syndrome: Discordance between testicular growth and pituitary-gonadal hormones in male cases
59th ESPE 2021 Meeting, Türkiye, 22 Eylül 2021
Tıbbi Yeni Nesil Dizileme:Kime? Ne Zaman?
56. Online Ulusal Nöroloji Kongresi, İstanbul, Türkiye, 28 Kasım - 02 Aralık 2020
A case report of a rare nonsense ZP1 variant in a patient with oocyte maturation defect
ESHG KONGRE, London, Birleşik Krallık, 6 - 09 Haziran 2020, ss.155-156
İnteraktif Aile Değerlendirme
56. Online Ulusal Nöroloji Kongresi, İstanbul, Türkiye, 28 Kasım - 02 Aralık 2020
Ailevi Erken Puberte Olgularında MKRN3 ve DLK1 Genlerinin Dizilenmesi
XXIV. Ulusal Pediatrik Endokrinoloji ve Diyabet Çevrimiçi Kongresi , 30 Ekim - 01 Kasım 2020, ss.12
Genetikçi gözüyle NIPT
Türkiye Maternal Fetal Tıp ve Perinatoloji Derneği Ultrasonografi Kursu, İstanbul, Türkiye, 31 Ekim - 02 Kasım 2020
Pre-perinatal dönemde ayırıcı tanıda osteogenezis imperfekta düşünülen olgularda yeni nesil dizilemenin kesin tanıya katkısı
4. Ulusal Çocuk Genetik Kongresi, Ankara, Türkiye, 25 - 27 Eylül 2019, ss.28
Targeted Panel Gene Sequencing for Identification of Genetic Etiology of 46, XY Disorders of Sex Development
European Society for Paediatric Endocrinology (ESPE), Basel, İsviçre, 20 - 22 Eylül 2019, ss.193
Boy Kısalığının Genetik Etiyolojisinin Araştırılması
XXIII Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Türkiye, 17 - 21 Nisan 2019
46,XY Cinsiyet Gelişim Bozukluğu Hastalarının Genetik Etyolojisinin Değerlendirilmesi
XXIII. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Türkiye, 17 Nisan 2019
PROKR2 Mutations in Patients with Growth Hormone Deficiency andMultiple Pituitary Hormone Deficiency
57. ESPE 2018, 27 - 29 Eylül 2018
Evaluation of Genetic Etiology in Patients with 46,XY Disorders of Sex Development: One Center Experience
57th ESPE 2018 Meeting, Atina, Yunanistan, 27 Eylül 2018
Copy-Number Variations of the Human Olfactory Receptor Gene Family in Patients with Macromastia and Prepubertal Gynecomastia
57th Annual Meeting of the European Society for Paediatric Endocrinology, Atina, Yunanistan, 27 - 29 Eylül 2018, ss.562
Evaluation of Three Patients with 46,XY Gonadal Dysgenesis due to Desert Hedgehog Gene Mutations
57th Annual Meeting of the European Society for Paediatric Endocrinology, Atina, Yunanistan, 27 - 29 Eylül 2018, ss.558
Genetic Investigation in Parkinson Disease.
Erciyes Medical Genetics Days 2018, Kayseri, Türkiye, 7 - 10 Mart 2018, cilt.1, sa.1, ss.52
GALT mutation spectrum including four novel alterations in Turkish Cases With Galactosemia
Erciyes Medical Genetics Days 2018, Kayseri, Türkiye, 7 - 10 Mart 2018, cilt.1, sa.1, ss.46
Molecular Genetic diagnostıc efficiency of targeted next generation sequencing on “disorders of sex development
Erciyes Medical Genetics Days 2018, Kayseri, Türkiye, 7 - 10 Mart 2018, cilt.1, sa.1, ss.51
The Application of array CGH for Monogenic Disorders; Clinical and Molecular Cytogenetic Characterization of Twenty Patients.
European Cytogenetic Conference, Floransa, İtalya, 29 Haziran - 02 Temmuz 2017, ss.8
Mutation spectrum of Fanconi anemia associated genes in eleven patients from Turkey
ESHG-2017, Kopenhag, Danimarka, 27 - 30 Mayıs 2017, ss.1
Fanconi Anemisi olgularda ilişkili genlerin yeni nesil dizileme teknolojisi ile araştırılması
3. Metabolik Dismorfolojiş Sempozyumu, İstanbul, Türkiye, 10 - 12 Mart 2016, cilt.1, sa.1, ss.65
Erken Başlayan Alzheimer Hastalığında PSEN1 ve APP Gen Mutasyonlarının Araştırılması.
Uluslararası katkılı ‘Gevher Nesibe Günleri 2016, Kayseri, Türkiye, 11 - 13 Şubat 2016, ss.36
False positive and false negative results of cell free DNA testing
10th European Cytogenetics Conference 2015, Strasburg, Fransa, 4 - 07 Temmuz 2015, ss.124
HBB gene mutation spectrum of beta-thalasemia patients from Turkey
ESHG 2014, Milano, İtalya, 31 Mayıs - 03 Haziran 2014, cilt.22, sa.1, ss.140
Array-CGH Findings of de novo Apparently Balanced Chromosomal Rearrangements in Phenotypically Affected 20 Cases
European Cytogenetic Conference, İrlanda, ss.122
Familial Microdeletion of 3 Mb at 22q11.2 With Unusual Phenotype
European Cytogenetic Conference, İrlanda, 1 - 04 Haziran 2013, ss.69
Fetal karyotiplemede saptanan mozaik yapısal kromozom anomalisi ve oluşum mekanizması
10.Ulusal Tıbbi Genetik Kongresi, Bursa, Türkiye, 19 Aralık 2012, ss.34
Indications for Fetal Karyotyping and Ultrasonographic Findings in Common Trisomies; Alterations in over 2 Decades
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
European Human Genetic Congress, Almanya, ss.148-149
Array-CGH results in fetuses with central nervous system
European Human Genetic Congress, Almanya, ss.144
Step by Step, Formation of Complex Chromosomal Rearrangements
European Human Genetic Congress, Almanya, ss.110
The Efficiency Of Multiplex Ligation-Dependent Probe AmplificationTechnique In The Diagnosis Of Fetal Chromosomal Abnormalities
European Human Genetics Conference 2012, Nuremberg, Almanya, 23 - 26 Haziran 2012, ss.150
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
Tıbbi Genetik Kongresi, İstanbul, Türkiye, ss.104-105
A novel molecular and functional mechanism predisposing to ototoxicity
European Human Genetic Congress, Almanya, 1 - 04 Mayıs 2010, ss.5
Girl with left hemiatrophy reveals confined mosaicisms for r(13)in fibroblasts
European Human Genetic Congress, Avusturya, ss.125
Otozomal resesif non-sendromik mental retardasyon olgularında CYFIP1 ve CYFIP2 genlerinin incelenmesi
8. Ulusal Tıbbi Genetik Kongresi, Çanakkale, Türkiye, 6 - 09 Mayıs 2008, ss.1
Moebius sendromu ile 13q11.2-q13.3 kromozomal bölgesi ilişkisinin delesyon haritalaması yöntemi ile incelenmesi
8. uluslararası katılımlı Ulusal Genetik Kongresi, 2008, Çanakkale, Türkiye, 6 - 09 Mayıs 2008, cilt.1, sa.1, ss.198
Investigation of CYFIP1 and CYFIP2 genes in patients with autosomal recessive non-syndromic mental retardation
European Human Genetics, İspanya, ss.271
The possible failure rate in diagnosing major chromosomal abnormalities with an attempt to complete shift to QF-PCR in prenatal diagnosis
6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, ss.254
Dicentric chromosome 22 causing partial trisomy of 22q10Yq13 in a child with Cat Eye syndrome phenotype
European Cytogenetic Conference, Türkiye, ss.61
A case of monosomy 8p23.3Yter and trisomy 16p13.3Yter; cytogenetic, molecular cytogenetic and clinical findings
European Cytogenetic Conference, Türkiye, ss.96
The possible failure rate in diagnosing major chromosomal abnormalities with an Attempt to complete shift to QF-PCR in prenatal diagnosis
European Cytogenetic Conference, Türkiye, ss.254
“Fetal Karyotip analizinde saptanan marker kromozomların aydınlatılması: 20 olgunluk seri sonuçları”
V. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 2002 , Konya, Türkiye, 9 - 12 Ekim 2002, cilt.1, sa.1, ss.3
Identification of de novo structural chromosome abnormalities using “Chromoprobe Multiprobe” slide technique,”
Second European Cytogenetics Conference, 1999, Vienna, Avusturya, 3 - 09 Haziran 1999, cilt.1, sa.1, ss.159
De Novo Kromozom Anomalilerinin Tanısında Yeni Bir Sistem “Chromoprobe Multiprobe”
3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 1998, Muğla, Türkiye, 26 - 30 Nisan 1998, cilt.1, sa.1, ss.116
The rate of unbalanced chromosome aberrations-prenatal diagnosis experience
2nd Balcan Meeting on Human Genetics, Türkiye, 1 - 04 Eylül 1996
An apparently balanced complex chromosome rearrangement in a phenotypically abnormal patient
2nd Balcan Meeting on Human Genetics, Türkiye, 1 - 04 Eylül 1996
An unusual reciprocal translocation in a couple with recurrent abortions
Balcan Meeting on Human Genetics, Türkiye, 1 - 04 Eylül 1996
Kitap & Kitap Bölümleri
Prenatal ve Preimplantasyon Genetik Tanı
Pediyatri Pratiğinde Genetik Testlerin Seçimi ve Yorumlanması, Beyhan Tüysüz, Editör, Ankara Nobel Tıp Kitabevleri, Ankara, ss.129-135, 2023
Türk Bireylerde Tanımlanan ACE2, TMPRSS2, CTSB ve CTSL Gen Varyantlarının Populasyonlar Arası Karşılaştırmalı Analizi
COVID-19: Moleküler ve Klı̇nik Yaklaşım, Bedia Çakmakoğlu,Sema Sırma Ekmekçi,Umut Can Küçüksezer,Vuslat Yılmaz,Günnur Deniz, Editör, Istanbul University, İstanbul, ss.67-76, 2020
Tıbbi Genetik
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).
Endokrinoloji Diyabet Yıllığı, Yarman S,Alagöl F., Editör, İstanbul Tıp Fakültesi, İstanbul, ss.103-113, 2012
İnsan Kromozomları ve Anomalileri
Prenatal Tanı ve Tedavi, Kılıç Aydınlı, Editör, Perspektiv Yayın ve Reklam Hizmetleri, İstanbul, ss.19-23, 1992
Prenatal tanıda Sitogenetik Yöntemler
Prenatal tanı ve Tedavi, Kılıç Aydınlı, Editör, Perspektiv Yayın ve reklam, İstanbul, ss.24-30, 1992