SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
The first case of Dyssegmental Dysplasia Rolland-Desbuquois type with a variant in HSPG2
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.28, sa.SUPPL 1, ss.237, 2020 (SCI-Expanded)
Genetic Evaluation of Idiopathic Short Stature
HORMONE RESEARCH IN PAEDIATRICS
, cilt.91, ss.323, 2019 (SCI-Expanded)
The Clinical Features and Effect of Growth Hormone Treatment in 3-M Syndrome Cases with Severe Growth Retardation
HORMONE RESEARCH IN PAEDIATRICS
, cilt.91, ss.452, 2019 (SCI-Expanded)
Osteoporosis-Pseudoglioma Syndrome (OPPG): Improvement of Osteoporosis on Biphosphonate Therapy
HORMONE RESEARCH IN PAEDIATRICS
, cilt.90, ss.181-182, 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)
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)
PROKR2 Mutations in Patients With Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency
HORMONE RESEARCH IN PAEDIATRICS
, cilt.90, ss.500, 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)
PRIMARY COENZYME Q10 DEFICIENCY-6 (COQ10D6): CASE REPORT
PEDIATRIC NEPHROLOGY
, cilt.32, sa.9, ss.1763, 2017 (SCI-Expanded)
Genotypic and phenotypic presentation of TTR-FAP in Turkey
EUROPEAN JOURNAL OF NEUROLOGY
, cilt.23, ss.341, 2016 (SCI-Expanded)
The 3M Syndrome: A Cause of Pre- and Post-Natal Severe Growth Retardation
HORMONE RESEARCH IN PAEDIATRICS
, cilt.86, ss.465-466, 2016 (SCI-Expanded)
Diğer Dergilerde Yayınlanan Makaleler
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)
FETAL BRAIN SHRINKAGE: A RARE, MYSTIFYING ANOMALY
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, cilt.82, sa.2, ss.123-126, 2019 (ESCI)
PRENATAL DIAGNOSIS OF ISOLATED SPLIT HAND/FOOT MALFORMATION
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, cilt.81, sa.1, ss.37-41, 2018 (ESCI)
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)
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar
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
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
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
PrimerKoenzim Q10 eksikliği-6 (COQ10D6), Olgu Sunumu
4. Çocuk Nefroloji Olgu Panayırı, İzmir, Türkiye, 3 - 04 Kasım 2017, ss.4
Loss of function mutations in Carboxypeptidase D cause a new syndrome with recognizable dysmorphisms, lymphedema and sensorineural hearing loss.
17TH MANCHESTER DYSMORPHOLOGY CONFERENCE, Manchester, Birleşik Krallık, 7 - 11 Kasım 2016, ss.1
Step by Step, Formation of Complex Chromosomal Rearrangements
European Human Genetic Congress, Almanya, ss.110
Girl with left hemiatrophy reveals confined mosaicisms for r(13)in fibroblasts
European Human Genetic Congress, Avusturya, ss.125