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G Brunner

Showing results (571-580 of 727) with videos related to

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Clinical Genetics|February 22, 2024
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profileDmitrijs Rots, Kathleen Rooney, Raissa Relator, et al.
American Journal of Human Genetics|November 7, 2017
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain PhenotypeIdeke J C Lamers, Margot R F Reijnders, Hanka Venselaar, et al.
Nature Genetics|August 15, 2006
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismDavid A Koolen, Lisenka E L M Vissers, Rolph Pfundt, et al.
Nature Genetics|December 23, 2008
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1Marjolijn J L Ligtenberg, Roland P Kuiper, Tsun Leung Chan, et al.
American Journal of Human Genetics|March 31, 2015
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndromeJanson White, Juliana F Mazzeu, Alexander Hoischen, et al.
Orphanet Journal of Rare Diseases|July 25, 2013
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutationsClaudia Voigt, André Mégarbané, Kornelia Neveling, et al.
British Journal of Cancer|April 3, 1999
Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2M J Ligtenberg, F B Hogervorst, H W Willems, et al.
American Journal of Human Genetics|April 23, 2013
Mutations in ANTXR1 cause GAPO syndromeViktor Stránecký, Alexander Hoischen, Hana Hartmannová, et al.
American Journal of Human Genetics|May 22, 2012
Cantú syndrome is caused by mutations in ABCC9Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, et al.
Nature Genetics|June 15, 2007
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeHeleen H Arts, Dan Doherty, Sylvia E C van Beersum, et al.
Pageof 73

Showing results (571-580 of 727) with videos related to

Sort By:
Pageof 73
Clinical Genetics|February 22, 2024
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profileDmitrijs Rots, Kathleen Rooney, Raissa Relator, et al.
American Journal of Human Genetics|November 7, 2017
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain PhenotypeIdeke J C Lamers, Margot R F Reijnders, Hanka Venselaar, et al.
Nature Genetics|August 15, 2006
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismDavid A Koolen, Lisenka E L M Vissers, Rolph Pfundt, et al.
Nature Genetics|December 23, 2008
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1Marjolijn J L Ligtenberg, Roland P Kuiper, Tsun Leung Chan, et al.
American Journal of Human Genetics|March 31, 2015
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndromeJanson White, Juliana F Mazzeu, Alexander Hoischen, et al.
Orphanet Journal of Rare Diseases|July 25, 2013
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutationsClaudia Voigt, André Mégarbané, Kornelia Neveling, et al.
British Journal of Cancer|April 3, 1999
Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2M J Ligtenberg, F B Hogervorst, H W Willems, et al.
American Journal of Human Genetics|April 23, 2013
Mutations in ANTXR1 cause GAPO syndromeViktor Stránecký, Alexander Hoischen, Hana Hartmannová, et al.
American Journal of Human Genetics|May 22, 2012
Cantú syndrome is caused by mutations in ABCC9Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, et al.
Nature Genetics|June 15, 2007
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeHeleen H Arts, Dan Doherty, Sylvia E C van Beersum, et al.
Pageof 73