受强制性开放获取政策约束的文章 - Zubair Ahmed了解详情
无法在其他位置公开访问的文章：3 篇
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Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
JM Schultz, R Bhatti, AC Madeo, A Turriff, JA Muskett, CK Zalewski, ...
Journal of medical genetics 48 (11), 767-775, 2011
强制性开放获取政策： US National Institutes of Health
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Usher syndrome: hearing loss with vision loss
TB Friedman, JM Schultz, ZM Ahmed, ET Tsilou, CC Brewer
Medical genetics in the clinical practice of ORL 70, 56-65, 2011
强制性开放获取政策： US National Institutes of Health
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DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2‐q15
AM Waryah, A Rehman, ZM Ahmed, ZH Bashir, SY Khan, AU Zafar, ...
Clinical genetics 76 (3), 270-275, 2009
强制性开放获取政策： US National Institutes of Health
可在其他位置公开访问的文章：105 篇
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
强制性开放获取政策： Swiss National Science Foundation, US National Institutes of Health, US …
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Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
S Riazuddin, IA Belyantseva, APJ Giese, K Lee, AA Indzhykulian, ...
Nature genetics 44 (11), 1265-1271, 2012
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Increasing the complexity: new genes and new types of albinism
L Montoliu, K Grønskov, AH Wei, M Martínez‐García, A Fernández, ...
Pigment cell & melanoma research 27 (1), 11-18, 2014
强制性开放获取政策： Government of Spain
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Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
AU Rehman, RJ Morell, IA Belyantseva, SY Khan, ET Boger, M Shahzad, ...
The American Journal of Human Genetics 86 (3), 378-388, 2010
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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, ...
Nature genetics 47 (8), 926-932, 2015
强制性开放获取政策： US National Institutes of Health, National Institute for Health Research, UK
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Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing
S Kitajiri, T Sakamoto, IA Belyantseva, RJ Goodyear, R Stepanyan, ...
Cell 141 (5), 786-798, 2010
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CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells
APJ Giese, YQ Tang, GP Sinha, MR Bowl, AC Goldring, A Parker, ...
Nature communications 8 (1), 43, 2017
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council, Wellcome Trust
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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, DL Polla, Y Song, ...
Molecular psychiatry 22 (11), 1604-1614, 2017
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Molecular remodeling of tip links underlies mechanosensory regeneration in auditory hair cells
AA Indzhykulian, R Stepanyan, A Nelina, KJ Spinelli, ZM Ahmed, ...
PLoS biology 11 (6), e1001583, 2013
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Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42
G Borck, AU Rehman, K Lee, HM Pogoda, N Kakar, S Von Ameln, ...
The American Journal of Human Genetics 88 (2), 127-137, 2011
强制性开放获取政策： US National Institutes of Health, German Research Foundation
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Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes
RB Hufnagel, G Arno, ND Hein, J Hersheson, M Prasad, Y Anderson, ...
Journal of medical genetics 52 (2), 85-94, 2015
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Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome
M Simon, EM Richard, X Wang, M Shahzad, VH Huang, TA Qaiser, ...
PLoS genetics 11 (3), e1005097, 2015
强制性开放获取政策： US National Institutes of Health, Action on Hearing Loss, UK, Doris Duke …
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Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function
S Riazuddin, S Nazli, ZM Ahmed, Y Yang, F Zulfiqar, RS Shaikh, AU Zafar, ...
Human mutation 29 (4), 502-511, 2008
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Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39
JM Schultz, SN Khan, ZM Ahmed, S Riazuddin, AM Waryah, D Chhatre, ...
The American Journal of Human Genetics 85 (1), 25-39, 2009
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Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74
ZM Ahmed, R Yousaf, BC Lee, SN Khan, S Lee, K Lee, T Husnain, ...
The American Journal of Human Genetics 88 (1), 19-29, 2011
强制性开放获取政策： US National Institutes of Health, Research Foundation (Flanders)
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Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan
BY Choi, ZM Ahmed, S Riazuddin, MA Bhinder, M Shahzad, T Husnain, ...
Clinical genetics 75 (3), 237-243, 2009
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Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome
ZM Ahmed, S Riazuddin, S Aye, RA Ali, H Venselaar, S Anwar, ...
Human genetics 124, 215-223, 2008
强制性开放获取政策： US National Institutes of Health
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