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1 . Academic Journal
Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome
저자
by
Kerem Teralı
;
Ayberk Türkyılmaz
;
Safiye Güneş Sağer
;
Alper Han Çebi
.
소스
Clinical and Translational Science, Vol 17, Iss 1, Pp n/a-n/a (2024)
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6 . Academic Journal
Genetic Forms of Calciopenic Rickets
저자
by
Ayse Sena Donmez
;
Ayberk Turkyilmaz
;
Atilla Cayir
.
소스
Eurasian Journal of Medicine, Vol 54, Iss Supp1, Pp 159-163 (2022)
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5 . Academic Journal
A Genetic Approach in the Evaluation of Short Stature
저자
by
Ayberk Turkyilmaz
;
Ayse Sena Donmez
;
Atilla Cayir
.
소스
Eurasian Journal of Medicine, Vol 54, Iss Supp1, Pp 179-186 (2022)
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5 . Academic Journal
Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey
저자
by
Emine Kartal Baykan
;
Ayberk Türkyılmaz
.
소스
JCRPE, Vol 14, Iss 3, Pp 350-355 (2022)
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4 . Academic Journal
Investigating CFTR gene variations in patient groups with positive newborn screening test results and preliminary clinical diagnosis of cystic fibrosis in the eastern anatolia region of Turkey
저자
by
Ayberk Turkyilmaz
;
Oguzhan Yarali
.
소스
Medicine Science, Vol 10, Iss 2, Pp 293-8 (2021)
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4 . Academic Journal
Screening of MC4R, LEP, LEPR, POMC, SH2B1, and SIM1 genes in Turkish children with severe early-onset obesity
저자
by
Ayberk Turkyilmaz
;
Oguzhan Yarali
;
Erdal Kurnaz
;
Atilla Cayir
.
소스
Medicine Science, Vol 10, Iss 2, Pp 328-33 (2021)
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6 .
Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood
저자
by
Gunes Sager
;
Ayberk Türkyilmaz
;
Hediye Pınar Günbey
;
İbrahim Taş
;
Fatih Ozhelvaci
, et al.
소스
European Journal of Paediatric Neurology
. 44:51-56
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7 .
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome
저자
by
Bilge Geckinli
;
Ayberk Turkyilmaz
;
Ceren Alavanda
;
Gunes Sager
;
Esra Arslan Ates
, et al.
소스
Clinical Dysmorphology
. 32:55-61
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7 .
The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1
저자
by
Taner Karakaya
;
Ayberk Turkyilmaz
;
Deniz Eris
;
Mehtap Kaya
;
Kupra Oksuz
, et al.
소스
Molecular Syndromology
. :1-7
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7 .
Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot–Marie–Tooth disease
저자
by
Aysin Tuba Kaplan
;
Sibel Oskan Yalcin
;
Safiye Gunes Sager
;
Ayberk Türkyılmaz
;
Rahşan İnan
.
소스
International Ophthalmology
. 43:333-341
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