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1 . Academic Journal
The impact of the Turkish population variome on the genomic architecture of rare disease traits
저자
by
Zeynep Coban-Akdemir
;
Xiaofei Song
;
Francisco C. Ceballos
;
Davut Pehlivan
;
Ender Karaca
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101830- (2024)
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7 . Academic Journal
P691: Elevating pharmacogenomics: A tailored in-house solution for empowering accurate clinical decision support
저자
by
Scott Kang
;
Jenifer Williams
;
Lynne Klingman
;
Marcelo Pando
;
Ender Karaca
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101595- (2024)
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7 . Academic Journal
P440: DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest an association with congenital anomalies and dysmorphism
저자
by
Yunjia Chen
;
Ender Karaca
;
Nathaniel Robin
;
Dana Goodloe
;
Ali Al-Beshri
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100487- (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)
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7 . Academic Journal
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
저자
by
Dana Marafi
;
Tadahiro Mitani
;
Sedat Isikay
;
Jozef Hertecant
;
Mohammed Almannai
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 610-627 (2020)
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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
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
저자
by
Aleksandra Siekierska
;
Hannah Stamberger
;
Tine Deconinck
;
Stephanie N. Oprescu
;
Michèle Partoens
, et al.
소스
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
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7 . Academic Journal
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
저자
by
Claudia Gonzaga-Jauregui
;
Tamar Harel
;
Tomasz Gambin
;
Maria Kousi
;
Laurie B. Griffin
, et al.
소스
Cell Reports, Vol 12, Iss 7, Pp 1169-1183 (2015)
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7 .
Centers for Mendelian Genomics: A decade of facilitating gene discovery
저자
by
Samantha M. Baxter
;
Jennifer E. Posey
;
Nicole J. Lake
;
Nara Sobreira
;
Jessica X. Chong
, et al.
소스
Genet Med
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7 .
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
저자
by
Sevcan Tug Bozdogan
;
Ahmet C. Ceylan
;
Alper Gezdirici
;
Sukru Candan
;
Harsha Doddapaneni
, et al.
소스
Am J Hum Genet
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