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Alexander Hoischen

Showing results (141-150 of 249) with videos related to

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Human Mutation|August 13, 2017
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermiaManon S Oud, Liliana Ramos, Moira K O'Bryan, et al.
Frontiers in Immunology|August 9, 2021
Genetic Screening for <i>TLR7</i> Variants in Young and Previously Healthy Men With Severe COVID-19Xavier Solanich, Gardenia Vargas-Parra, Caspar I van der Made, et al.
American Journal of Human Genetics|March 15, 2022
Familial long-read sequencing increases yield of de novo mutationsMichelle D Noyes, William T Harvey, David Porubsky, 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.
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.
American Journal of Human Genetics|July 8, 2021
Optical genome mapping enables constitutional chromosomal aberration detectionTuomo Mantere, Kornelia Neveling, Céline Pebrel-Richard, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosisKatharina Keupp, Yun Li, Ibrahim Vargel, et al.
The Journal of Clinical Investigation|July 12, 2016
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalisSilvia Martin-Almedina, Ines Martinez-Corral, Rita Holdhus, 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.
Pageof 25

Showing results (141-150 of 249) with videos related to

Sort By:
Pageof 25
Human Mutation|August 13, 2017
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermiaManon S Oud, Liliana Ramos, Moira K O'Bryan, et al.
Frontiers in Immunology|August 9, 2021
Genetic Screening for <i>TLR7</i> Variants in Young and Previously Healthy Men With Severe COVID-19Xavier Solanich, Gardenia Vargas-Parra, Caspar I van der Made, et al.
American Journal of Human Genetics|March 15, 2022
Familial long-read sequencing increases yield of de novo mutationsMichelle D Noyes, William T Harvey, David Porubsky, 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.
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.
American Journal of Human Genetics|July 8, 2021
Optical genome mapping enables constitutional chromosomal aberration detectionTuomo Mantere, Kornelia Neveling, Céline Pebrel-Richard, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosisKatharina Keupp, Yun Li, Ibrahim Vargel, et al.
The Journal of Clinical Investigation|July 12, 2016
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalisSilvia Martin-Almedina, Ines Martinez-Corral, Rita Holdhus, 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.
Pageof 25