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Coban Akdemir, Zeynep
295  Ergebnisse:
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1

Cover:

Lin, Mao ; Liu, Zhenlei ; Liu, Gang...
Molecular Genetics & Genomic Medicine.  8 (2020)  1 - p. , 2020
Link: https://doi.org/10.1002/..
 
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Alternative genomic diagnoses for individuals with a clinic..:

Dyment, David A. ; O'Donnell‐Luria, Anne ; Agrawal, Pankaj B....
American Journal of Medical Genetics Part A.  185 (2020)  1 - p. 119-133 , 2020
Link: https://doi.org/10.1002/..
 
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Genetic and molecular mechanism for distinct clinical pheno..:

Lin, Mao ; Liu, Zhenlei ; Liu, Gang...
Molecular Genetics & Genomic Medicine.  8 (2019)  1 - p. , 2019
Link: https://doi.org/10.1002/..
 
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4

Biallelic and De Novo Variants in DONSON Reveal a Clinical ..:

Karaca, Ender ; Posey, Jennifer E. ; Bostwick, Bret...
American Journal of Medical Genetics Part A.  179 (2019)  10 - p. 2056-2066 , 2019
Link: https://doi.org/10.1002/..
 
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5

Recurrent arginine substitutions in theACTG2gene are the pr..:

Assia Batzir, Nurit ; Kishor Bhagwat, Pranjali ; Larson, Austin...
Human Mutation.  41 (2019)  3 - p. 641-654 , 2019
Link: https://doi.org/10.1002/..
 
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Phenotypic expansion illuminates multilocus pathogenic vari..:

Karaca, Ender ; Posey, Jennifer E. ; Coban Akdemir, Zeynep...
Genetics in Medicine.  20 (2018)  12 - p. 1528-1537 , 2018
Link: https://doi.org/10.1038/..
 
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Clinically severe CACNA1A alleles affect synaptic function ..:

Luo, Xi ; Rosenfeld, Jill A. ; Yamamoto, Shinya...
PLOS Genetics.  13 (2017)  7 - p. e1006905 , 2017
Link: https://doi.org/10.1371/..
 
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An Organismal CNV Mutator Phenotype Restricted to Early Hum..:

Liu, Pengfei ; Yuan, Bo ; Carvalho, Claudia M.B....
Cell.  168 (2017)  5 - p. 830-842.e7 , 2017
Link: https://doi.org/10.1016/..
 
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9

Exome sequencing in mostly consanguineous Arab families wit..:

Charng, Wu-Lin ; Karaca, Ender ; Coban Akdemir, Zeynep...
BMC Medical Genomics.  9 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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Exome sequencing reveals homozygous TRIM2 mutation in a pat..:

Baylor-Hopkins Center for Mendelian Genomics ; Pehlivan, Davut ; Coban Akdemir, Zeynep...
Human Genetics.  134 (2015)  6 - p. 671-673 , 2015
Link: https://doi.org/10.1007/..
 
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Genes that Affect Brain Structure and Function Identified b..:

Karaca, Ender ; Harel, Tamar ; Pehlivan, Davut...
Neuron.  88 (2015)  3 - p. 499-513 , 2015
Link: https://doi.org/10.1016/..
 
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12

Myc and SAGA rewire an alternative splicing network during ..:

Hirsch, Calley L. ; Coban Akdemir, Zeynep ; Wang, Li...
Genes & Development.  29 (2015)  8 - p. 803-816 , 2015
Link: https://doi.org/10.1101/..
 
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AD-Syn-Net: systematic identification of Alzheimer's diseas..:

Pan, Xingxin ; Coban Akdemir, Zeynep H ; Gao, Ruixuan...
Briefings in Bioinformatics.  24 (2023)  2 - p. , 2023
Link: https://doi.org/10.1093/..
 
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Biallelic variants in ADAMTS15 cause a novel form of distal..:

Boschann, Felix ; Cogulu, Ozgur ; Pehlivan, Davut...
Genetics in Medicine.  25 (2023)  5 - p. 100799 , 2023
Link: https://doi.org/10.1016/..
 
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AI-DrugNet: A network-based deep learning model for drug re..:

Pan, Xingxin ; Yun, Jun ; Coban Akdemir, Zeynep H....
Computational and Structural Biotechnology Journal.  21 (2023)  - p. 1533-1542 , 2023
Link: https://doi.org/10.1016/..
 
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