受强制性开放获取政策约束的文章 - Arjan de Brouwer了解详情
无法在其他位置公开访问的文章：3 篇
A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families
F Alasti, MH Sanati, AH Behrouzifard, A Sadeghi, APM De Brouwer, ...
International journal of pediatric otorhinolaryngology 72 (2), 249-255, 2008
强制性开放获取政策： Research Foundation (Flanders)
Intellectual disability and bleeding diathesis due to deficient CMP–sialic acid transport
M Mohamed, A Ashikov, M Guillard, JH Robben, S Schmidt, ...
Neurology 81 (7), 681-687, 2013
强制性开放获取政策： German Research Foundation
Deletion of the 5′ exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
MJN Sá, N Fieremans, APM de Brouwer, R Sousa, FT e Costa, MJ Brito, ...
Journal of Medical Genetics 50 (11), 745-753, 2013
强制性开放获取政策： Research Foundation (Flanders)
可在其他位置公开访问的文章：77 篇
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
PS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ...
Nature genetics 41 (5), 535-543, 2009
强制性开放获取政策： US National Institutes of Health, Cancer Research UK
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder
V Cantagrel, DJ Lefeber, BG Ng, Z Guan, JL Silhavy, SL Bielas, L Lehle, ...
Cell 142 (2), 203-217, 2010
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute, German …
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ...
Molecular psychiatry 21 (1), 133-148, 2016
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
M Giannandrea, V Bianchi, ML Mignogna, A Sirri, S Carrabino, E d'Elia, ...
The American Journal of Human Genetics 86 (2), 185-195, 2010
强制性开放获取政策： US National Institutes of Health
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
KLM Coene, R Roepman, D Doherty, B Afroze, HY Kroes, SJF Letteboer, ...
The American Journal of Human Genetics 85 (4), 465-481, 2009
强制性开放获取政策： US National Institutes of Health
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
Z Iqbal, G Vandeweyer, M van der Voet, AM Waryah, MY Zahoor, ...
Human molecular genetics 22 (10), 1960-1970, 2013
强制性开放获取政策： Research Foundation (Flanders)
Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia
JHM Schuurs-Hoeijmakers, MT Geraghty, EJ Kamsteeg, S Ben-Salem, ...
The American Journal of Human Genetics 91 (6), 1073-1081, 2012
强制性开放获取政策： Canadian Institutes of Health Research, Genome Canada
TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function
F Gómez-Herreros, JHM Schuurs-Hoeijmakers, M McCormack, ...
Nature genetics 46 (5), 516-521, 2014
强制性开放获取政策： US National Institutes of Health, Health Research Board, Ireland, Cancer …
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
CDM Van Karnebeek, L Bonafé, XY Wen, M Tarailo-Graovac, S Balzano, ...
Nature Genetics 48 (7), 777-784, 2016
强制性开放获取政策： Canadian Institutes of Health Research, Genome Canada, Natural Sciences and …
Clinical significance of de novo and inherited copy‐number variation
AT Vulto‐van Silfhout, JY Hehir‐Kwa, BWM van Bon, ...
Human mutation 34 (12), 1679-1687, 2013
强制性开放获取政策： UK Medical Research Council, Netherlands Organisation for Health Research …
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
强制性开放获取政策： US National Institutes of Health, Wellcome Trust
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24. 3 microdeletion syndrome
MH Willemsen, BA Fernandez, CA Bacino, E Gerkes, APM de Brouwer, ...
European Journal of Human Genetics 18 (4), 429-435, 2010
强制性开放获取政策： Canadian Institutes of Health Research, Genome Canada
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
SB Wortmann, S Ziętkiewicz, M Kousi, R Szklarczyk, TB Haack, ...
The American Journal of Human Genetics 96 (2), 245-257, 2015
强制性开放获取政策： US National Institutes of Health, Canadian Institutes of Health Research …
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome
JHM Schuurs-Hoeijmakers, EC Oh, LELM Vissers, MEM Swinkels, ...
The American Journal of Human Genetics 91 (6), 1122-1127, 2012
强制性开放获取政策： US National Institutes of Health
Development of a genotyping microarray for Usher syndrome
FPM Cremers, WJ Kimberling, M Külm, AP De Brouwer, E Van Wijk, ...
Journal of medical genetics 44 (2), 153-160, 2007
强制性开放获取政策： German Research Foundation
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
JHM Schuurs-Hoeijmakers, AT Vulto-van Silfhout, LELM Vissers, ...
Journal of medical genetics 50 (12), 802-811, 2013
强制性开放获取政策： Netherlands Organisation for Health Research and Development, Government of …
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome
Z Iqbal, P Cejudo-Martin, A de Brouwer, B van der Zwaag, P Ruiz-Lozano, ...
The American Journal of Human Genetics 86 (2), 254-261, 2010
强制性开放获取政策： US National Institutes of Health
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