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Akdemir, Zeynep Coban
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1

Bi-allelic TTI1 variants cause an autosomal-recessive neuro..:

Serey-Gaut, Margaux ; Cortes, Marisol ; Makrythanasis, Periklis...
The American Journal of Human Genetics.  110 (2023)  3 - p. 499-515 , 2023
Link: https://doi.org/10.1016/..
 
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2

Bi-allelic CAMSAP1 variants cause a clinically recognizable..:

Khalaf-Nazzal, Reham ; Fasham, James ; Inskeep, Katherine A....
The American Journal of Human Genetics.  109 (2022)  11 - p. 2068-2079 , 2022
Link: https://doi.org/10.1016/..
 
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3

Dominant mitochondrial membrane protein-associated neurodeg..:

Rickman, Olivia J. ; Salter, Claire G. ; Gunning, Adam C....
Parkinsonism & Related Disorders.  82 (2021)  - p. 84-86 , 2021
Link: https://doi.org/10.1016/..
 
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4

Multilocus pathogenic variation in ZC4H2, MUSK, CAPN3, and ..:

Herman, Isabella ; Marafi, Dana ; Abdelsalam, Ghada...
Neurology.  96 (2021)  15_supplement - p. , 2021
Link: https://doi.org/10.1212/..
 
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5

Functional biology of the Steel syndrome founder allele and..:

Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center ; Gonzaga-Jauregui, Claudia ; Yesil, Gozde...
European Journal of Human Genetics.  28 (2020)  9 - p. 1243-1264 , 2020
Link: https://doi.org/10.1038/..
 
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6

Exome sequencing reveals novel candidate genes and potentia..:

Pehlivan, Davut ; Bayram, Yavuz ; Akdemir, Zeynep Coban...
Neurology.  92 (2019)  15_supplement - p. , 2019
Link: https://doi.org/10.1212/..
 
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7

A combined immunodeficiency with severe infections, inflamm..:

Volpi, Stefano ; Cicalese, Maria Pia ; Tuijnenburg, Paul...
Journal of Allergy and Clinical Immunology.  143 (2019)  6 - p. 2296-2299 , 2019
Link: https://doi.org/10.1016/..
 
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8

Phenotypic expansion ofPOGZ‐related intellectual disability..:

Assia Batzir, Nurit ; Posey, Jennifer E. ; Song, Xiaofei...
American Journal of Medical Genetics Part A.  182 (2019)  1 - p. 38-52 , 2019
Link: https://doi.org/10.1002/..
 
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9

Whole Exome Sequencing in Essential Tremor (P6.061):

Alfradique-Dunham, Isabel ; Robak, Laurie ; Kaw, Anita...
Neurology.  90 (2018)  15_supplement - p. , 2018
Link: https://doi.org/10.1212/..
 
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10

Integrated Whole Exome Sequencing and Chromosomal Microarra..:

Robak, Laurie ; Du, Renqian ; Yuan, Bo...
Neurology.  90 (2018)  15_supplement - p. , 2018
Link: https://doi.org/10.1212/..
 
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11

The coexistence of copy number variations (CNVs) and single..:

DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study ; Liu, Jiaqi ; Zhou, Yangzhong...
Human Genetics.  137 (2018)  6-7 - p. 553-567 , 2018
Link: https://doi.org/10.1007/..
 
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12

A novel NAA10 variant with impaired acetyltransferase activ..:

Støve, Svein Isungset ; Blenski, Marina ; Stray-Pedersen, Asbjørg...
European Journal of Human Genetics.  26 (2018)  9 - p. 1294-1305 , 2018
Link: https://doi.org/10.1038/..
 
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13

First Case of CD40LG Deficiency in Ecuador, Diagnosed after..:

Pedroza, Luis Alberto ; Guerrero, Nina ; Stray-Pedersen, Asbjørg...
Frontiers in Pediatrics.  5 (2017)  - p. , 2017
Link: https://doi.org/10.3389/..
 
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14

Dual diagnosis can explain the phenotype in clinically hete..:

Pehlivan, Davut ; Karaca, Ender ; Harel, Tamar...
Neurology.  88 (2017)  16_supplement - p. , 2017
Link: https://doi.org/10.1212/..
 
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15

Mechanisms for Complex Chromosomal Insertions:

Gu, Shen ; Szafranski, Przemyslaw ; Akdemir, Zeynep Coban...
PLOS Genetics.  12 (2016)  11 - p. e1006446 , 2016
Link: https://doi.org/10.1371/..
 
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