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1 . Academic Journal
Evaluation of Similar Genetic Pathophysiology Underlying Diabetes Mellitus and Peyronie’s Disease: WNT-2 and TGF Beta-1 Genes
저자
by
Erdem Toprak
;
Emin Taha Keskin
;
Alper Gezdirici
;
Alper Otunctemur
;
Halil Lutfi Canat
.
소스
Haseki Tıp Bülteni, Vol 62, Iss 2, Pp 92-96 (2024)
Open Access (DOAJ)
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7 . Academic Journal
Cochlear Implantation in Primrose Syndrome with a Novel ZBTB20 Gene Variant
저자
by
Burak Anıl Tuğci
;
Alper Gezdirici
;
Can Berk Aşaroğlu
;
Ercan Atasoy
;
İbrahim Sayın
, et al.
소스
Turkish Archives of Otorhinolaryngology, Vol 61, Iss 4, Pp 192-200 (2023)
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7 . 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)
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7 . Academic Journal
Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases
저자
by
Dinu Antony
;
Elif Gulec Yilmaz
;
Alper Gezdirici
;
Lennart Slagter
;
Zeineb Bakey
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 . Academic Journal
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
저자
by
Jaya Punetha
;
Ender Karaca
;
Alper Gezdirici
;
Ryan E. Lamont
;
Davut Pehlivan
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1395-1406 (2019)
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7 . Academic Journal
Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations
저자
by
Maxim Verlee
;
Aude Beyens
;
Alper Gezdirici
;
Elif Yilmaz Gulec
;
Lore Pottie
, et al.
소스
Genes, Vol 12, Iss 4, p 510 (2021)
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7 . Academic Journal
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
저자
by
Asaf Ta-Shma
;
Rim Hjeij
;
Zeev Perles
;
Gerard W Dougherty
;
Ibrahim Abu Zahira
, et al.
소스
PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)
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7 .
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
저자
by
Mauro Lecca
;
Davut Pehlivan
;
Damià Heine Suñer
;
Karin Weiss
;
Thibault Coste
, et al.
소스
The American Journal of Human Genetics
. 110:681-690
Full Text (ScienceDirect O/A)
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7 .
The Importance of Screening Tests and Amniocentesis in Approach to Pregnant Women Over the Age of Thirty-Five
저자
by
Salim Sezer
;
Melih Bestel
;
Gökhan Bolluk
;
Alper Gezdirici
.
소스
Journal of Academic Research in Medicine
. 12:155-158
Open Access (OpenAIRE)
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6 .
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature
저자
by
Ezgi Gökpınar İli
;
Alper Gezdirici
;
Erminia Di Pietro
;
Christine Yergeau
;
Nancy Braverman
.
소스
American Journal of Medical Genetics Part A
. 188:3229-3235
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