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Martijn H Breuning

Showing results (101-110 of 112) with videos related to

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Oncotarget|October 17, 2015
Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumorsAttje S Hoekstra, Marieke A de Graaff, Inge H Briaire-de Bruijn, et al.
Human Mutation|October 2, 2010
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive familyYvonne Hilhorst-Hofstee, Marry E B Rijlaarsdam, Arthur J H A Scholte, et al.
Nature Genetics|March 20, 2012
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndromeGijs W E Santen, Emmelien Aten, Yu Sun, et al.
Gastroenterology|July 6, 2004
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillanceYvonne M C Hendriks, Anja Wagner, Hans Morreau, et al.
Hormone Research|September 29, 2004
Genotype-phenotype correlation in patients suspected of having Sotos syndromeLonneke de Boer, Sarina G Kant, Marcel Karperien, et al.
Nature Genetics|December 7, 2010
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndromeJohannes G Dauwerse, Jill Dixon, Saskia Seland, et al.
European Journal of Human Genetics : EJHG|September 26, 2013
Copy number variants in patients with short statureHermine A van Duyvenvoorde, Julian C Lui, Sarina G Kant, et al.
Ophthalmology|April 17, 2017
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by PseudocolobomaLaurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, et al.
European Journal of Human Genetics : EJHG|February 23, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairmentLonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, et al.
Nature Genetics|February 28, 2012
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndromeCornelis A Albers, Dirk S Paul, Harald Schulze, et al.
Pageof 12

Showing results (101-110 of 112) with videos related to

Sort By:
Pageof 12
Oncotarget|October 17, 2015
Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumorsAttje S Hoekstra, Marieke A de Graaff, Inge H Briaire-de Bruijn, et al.
Human Mutation|October 2, 2010
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive familyYvonne Hilhorst-Hofstee, Marry E B Rijlaarsdam, Arthur J H A Scholte, et al.
Nature Genetics|March 20, 2012
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndromeGijs W E Santen, Emmelien Aten, Yu Sun, et al.
Gastroenterology|July 6, 2004
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillanceYvonne M C Hendriks, Anja Wagner, Hans Morreau, et al.
Hormone Research|September 29, 2004
Genotype-phenotype correlation in patients suspected of having Sotos syndromeLonneke de Boer, Sarina G Kant, Marcel Karperien, et al.
Nature Genetics|December 7, 2010
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndromeJohannes G Dauwerse, Jill Dixon, Saskia Seland, et al.
European Journal of Human Genetics : EJHG|September 26, 2013
Copy number variants in patients with short statureHermine A van Duyvenvoorde, Julian C Lui, Sarina G Kant, et al.
Ophthalmology|April 17, 2017
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by PseudocolobomaLaurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, et al.
European Journal of Human Genetics : EJHG|February 23, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairmentLonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, et al.
Nature Genetics|February 28, 2012
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndromeCornelis A Albers, Dirk S Paul, Harald Schulze, et al.
Pageof 12