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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

Autor: F. L. Raymond, Timothy D. O’Connor, Daniel L. Polla, Zafar Iqbal, Yang Song, M van de Vorst, H Van Bokhoven, Keren J. Carss, A.P.M. de Brouwer, E. van Beusekom, Saima Riazuddin, Detelina Grozeva, Christian Gilissen, Asma A. Khan, Mohsin Shahzad, Tjitske Kleefstra, K. van Heeswijk, Faiza Rasheed, S. A. Riazuddin, Muhammad Zaman Khan Assir, Zubair M. Ahmed, Joris A. Veltman, Muhammad Asim Raza Basra, Z. Agha, Laura Tomás-Roca, Muhammad Ansar, Willemijn M. Wissink-Lindhout, Muhammad Yasir Zahoor, muhammad zahid rashid, Mureed Hussain, Attia Razzaq, Shahid Niaz Khan, J. Akram

Publikováno v: Molecular Psychiatry, 22, 11, pp. 1604-1614
Molecular Psychiatry, 22, 1604-1614
Molecular Psychiatry, 22(11), 1604-1614. Nature Publishing Group
Molecular Psychiatry
Mol Psychiatry

Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–3% of the general population. Although research into the genetic causes of ID has recently gained momentum, identification of pathogenic mutations that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::450b848c5cdee0ed4d403fc263d14eae
https://hdl.handle.net/2066/181527

Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing

Autor: Nina Ishorst, Holger Thiele, Lina Gölz, Michael J. Dixon, Margrieta A. Alblas, Michael Knapp, I. Graf, E. Mangold, Markus M. Nöthen, Alexander Hemprich, Khalid Aldhorae, Jill Dixon, Teresa Kruse, Johanna Klamt, Christian Gilissen, Kathleen Keppler, Anne C. Böhmer, Heiko Reutter, Nikolaos Daratsianos, Sugirthan Sivalingam, Dmitriy Drichel, Alexander Hoischen, Gül Schmidt, Anna Maaser, Ann-Kathrin Hoebel, M van de Vorst, Alexander M. Zink, Anton Dunsche, Kerstin U. Ludwig, Stefanie Nowak

Publikováno v: Journal of dental research 96(11), 1314-1321 (2017). doi:10.1177/0022034517722761
Journal of Dental Research, 96, 11, pp. 1314-1321
Journal of Dental Research, 96, 1314-1321

Contains fulltext : 177554.pdf (Publisher’s version ) (Closed access) Nonsyndromic cleft palate only (nsCPO) is a facial malformation that has a livebirth prevalence of 1 in 2,500. Research suggests that the etiology of nsCPO is multifactorial, wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fba2c947aafa0cbdd67065cbfb1b9e0

[Validation of tools for assessing the intelligence and the functional impairment of Papiamento speaking suspects]

Autor: M, van de Vorst, D J, Vinkers, G E, Matroos, F, Heijtel, H W, Hoek

Publikováno v: Tijdschrift voor psychiatrie. 58(11)

Although Antillean suspects in the Netherlands are often diagnosed as being intellectually impaired, there are no validated tests available Papiamento (the native language) for assessing intelligence or functional impairment.To validate the use of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8b35f4e0611bd27d41aea110625967f3
https://pubmed.ncbi.nlm.nih.gov/27868173

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