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1 . Academic Journal
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
저자
by
Ruizhi Duan
;
Hadia Hijazi
;
Elif Yilmaz Gulec
;
Hatice Koçak Eker
;
Silvia R. Costa
, et al.
소스
HGG Advances, Vol 3, Iss 4, Pp 100132- (2022)
Full Text (Clinical Key)
Full Text (ScienceDirect)
Open Access (DOAJ)
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7 . Academic Journal
A hereditary angioedema screening in two villages, based on an index case, and identification of a novel mutation, '1033G>T', at the SERPING1 gene
저자
by
Mehmet Ozkars
;
Ozlem Keskın
;
Nazan Bayram
;
Huseyin Onay
;
Mehmet Keskın
, et al.
소스
Advances in Dermatology and Allergology, Vol 36, Iss 4, Pp 403-411 (2019)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach
저자
by
Bedia Sahin
;
Erik Burton
;
Okkes Kuybu
;
Yavuz Sahin
;
John Brinkley
.
소스
Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2693-2694 (2022)
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Scopus
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7 . Academic Journal
Does the Modification of Starting Gonadotropin Dose During ICSI Cycle Have Any Significant Impact on Cycle Outcome?
저자
by
Enis Özkaya
;
Yavuz Şahin
;
Semra Kayatas Eser
;
Betul Albayrak
;
Oguzhan Bulduk
, et al.
소스
Gynecology Obstetrics & Reproductive Medicine, Vol 23, Iss 3, Pp 138-142 (2017)
Open Access (DOAJ)
Find it @ DONGA
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7 .
Eighth case of
Li‐Campeau
syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype
저자
by
Masoud Edizadeh
;
Hande Kaymakcalan
;
Saeed Farajzadeh Valilou
;
Yavuz Şahin
.
소스
American Journal of Medical Genetics Part A
. 191:1465-1469
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6 .
3D modelling of surface spreading and underground dam groundwater recharge: Egri Creek Subbasin, Turkey
저자
by
Yavuz Sahin
;
Gokmen Tayfur
.
소스
Environmental Monitoring and Assessment
. 195
Scopus
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4 .
Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis
저자
by
Özge Yanık
;
Figen Batıoğlu
;
Yavuz Sahin
;
Sibel Demirel
;
Emin Özmert
.
소스
Ophthalmic Genetics
. :1-7
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7 .
A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene
저자
by
Nezir Özgün
;
Yavuz Sahin
;
İstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
;
Nezir Özgün / 0000-0002-0866-2004
;
Özgün, Nezir
, et al.
소스
Brain and Development
. 44:239-243
Full Text (Clinical Key)
Web of Science
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7 .
The Predictive Value of the Pentraxin 3 Concentration in Cumulus Cell Culture Media for the Embryo Implantation
저자
by
Eduard Malik
;
Tulay Irez
;
Onur Guralp
;
Yavuz Sahin
.
소스
Gynecology Obstetrics & Reproductive Medicine
. :1-7
Open Access (OpenAIRE)
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6 .
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
저자
by
Elisa Calì
;
Sheng-Jia Lin
;
Clarissa Rocca
;
Yavuz Sahin
;
Aisha Al Shamsi
, et al.
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