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G Brunner

Showing results (561-570 of 727) with videos related to

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American Journal of Human Genetics|June 5, 2001
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) geneA I den Hollander, J R Heckenlively, L I van den Born, et al.
The New England Journal of Medicine|October 5, 2012
Diagnostic exome sequencing in persons with severe intellectual disabilityJoep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, et al.
European Journal of Human Genetics : EJHG|June 19, 2014
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndromeLisenka E L M Vissers, Monica Bonetti, Jeroen Paardekooper Overman, et al.
Nature Genetics|December 2, 1999
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)W T McGuirt, S D Prasad, A J Griffith, et al.
Journal of Medical Genetics|May 24, 2005
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21M Ali, L J Highet, D Lacombe, et al.
American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
Nature Genetics|February 28, 2006
Mutations in different components of FGF signaling in LADD syndromeEdyta Rohmann, Han G Brunner, Hülya Kayserili, et al.
Journal of Medical Genetics|September 13, 2005
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 geneM C J Jongmans, R J Admiraal, K P van der Donk, et al.
Nature Genetics|August 10, 2004
Mutations in a new member of the chromodomain gene family cause CHARGE syndromeLisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, et al.
European Heart Journal|January 30, 2018
Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmiasJob A J Verdonschot, Mark R Hazebroek, Kasper W J Derks, et al.
Pageof 73

Showing results (561-570 of 727) with videos related to

Sort By:
Pageof 73
American Journal of Human Genetics|June 5, 2001
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) geneA I den Hollander, J R Heckenlively, L I van den Born, et al.
The New England Journal of Medicine|October 5, 2012
Diagnostic exome sequencing in persons with severe intellectual disabilityJoep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, et al.
European Journal of Human Genetics : EJHG|June 19, 2014
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndromeLisenka E L M Vissers, Monica Bonetti, Jeroen Paardekooper Overman, et al.
Nature Genetics|December 2, 1999
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)W T McGuirt, S D Prasad, A J Griffith, et al.
Journal of Medical Genetics|May 24, 2005
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21M Ali, L J Highet, D Lacombe, et al.
American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
Nature Genetics|February 28, 2006
Mutations in different components of FGF signaling in LADD syndromeEdyta Rohmann, Han G Brunner, Hülya Kayserili, et al.
Journal of Medical Genetics|September 13, 2005
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 geneM C J Jongmans, R J Admiraal, K P van der Donk, et al.
Nature Genetics|August 10, 2004
Mutations in a new member of the chromodomain gene family cause CHARGE syndromeLisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, et al.
European Heart Journal|January 30, 2018
Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmiasJob A J Verdonschot, Mark R Hazebroek, Kasper W J Derks, et al.
Pageof 73