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G Brunner

Showing results (581-590 of 727) with videos related to

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Epilepsia|December 8, 2018
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disabilityFrancesca M Snoeijen-Schouwenaars, Jans S van Ool, Judith S Verhoeven, et al.
Nature Communications|May 27, 2018
Identification of rare de novo epigenetic variations in congenital disordersMafalda Barbosa, Ricky S Joshi, Paras Garg, et al.
Nature|June 5, 2014
Genome sequencing identifies major causes of severe intellectual disabilityChristian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, et al.
American Journal of Human Genetics|May 29, 2000
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21Y J Crow, A P Jackson, E Roberts, et al.
Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.
Acta Neuropathologica|December 17, 2021
DTYMK is essential for genome integrity and neuronal survivalJo M Vanoevelen, Jörgen Bierau, Janine C Grashorn, et al.
Nature Genetics|October 3, 1999
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)A I den Hollander, J B ten Brink, Y J de Kok, et al.
American Journal of Human Genetics|September 22, 2005
Diagnostic genome profiling in mental retardationBert B A de Vries, Rolph Pfundt, Martijn Leisink, et al.
Nature Communications|October 21, 2017
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disabilityM R F Reijnders, M Kousi, G M van Woerden, et al.
American Journal of Human Genetics|February 12, 2013
Mutations in MED12 cause X-linked Ohdo syndromeAnneke T Vulto-van Silfhout, Bert B A de Vries, Bregje W M van Bon, et al.
Pageof 73

Showing results (581-590 of 727) with videos related to

Sort By:
Pageof 73
Epilepsia|December 8, 2018
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disabilityFrancesca M Snoeijen-Schouwenaars, Jans S van Ool, Judith S Verhoeven, et al.
Nature Communications|May 27, 2018
Identification of rare de novo epigenetic variations in congenital disordersMafalda Barbosa, Ricky S Joshi, Paras Garg, et al.
Nature|June 5, 2014
Genome sequencing identifies major causes of severe intellectual disabilityChristian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, et al.
American Journal of Human Genetics|May 29, 2000
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21Y J Crow, A P Jackson, E Roberts, et al.
Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.
Acta Neuropathologica|December 17, 2021
DTYMK is essential for genome integrity and neuronal survivalJo M Vanoevelen, Jörgen Bierau, Janine C Grashorn, et al.
Nature Genetics|October 3, 1999
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)A I den Hollander, J B ten Brink, Y J de Kok, et al.
American Journal of Human Genetics|September 22, 2005
Diagnostic genome profiling in mental retardationBert B A de Vries, Rolph Pfundt, Martijn Leisink, et al.
Nature Communications|October 21, 2017
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disabilityM R F Reijnders, M Kousi, G M van Woerden, et al.
American Journal of Human Genetics|February 12, 2013
Mutations in MED12 cause X-linked Ohdo syndromeAnneke T Vulto-van Silfhout, Bert B A de Vries, Bregje W M van Bon, et al.
Pageof 73