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Han G Brunner

Showing results (51-60 of 318) with videos related to

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American Journal of Human Genetics|December 23, 2022
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disordersLaurens Wiel, Juliet E Hampstead, Hanka Venselaar, et al.
Human Molecular Genetics|April 4, 2002
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63Pascal H G Duijf, Kaate R J Vanmolkot, Peter Propping, et al.
American Journal of Human Genetics|September 5, 2017
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated GenesStefan H Lelieveld, Laurens Wiel, Hanka Venselaar, et al.
Genes, Brain, and Behavior|July 9, 2021
Speech-language profiles in the context of cognitive and adaptive functioning in SATB2-associated syndromeLot Snijders Blok, Y Max Goosen, Leenke van Haaften, et al.
American Journal of Medical Genetics. Part A|July 17, 2007
Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic mapIlse Feenstra, Lisenka E L M Vissers, Mirjam Orsel, et al.
BMC Women'S Health|May 10, 2012
DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-directAisha S Sie, Liesbeth Spruijt, Wendy A G van Zelst-Stams, et al.
Human Genetics|April 10, 2002
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephalyJeffrey E Ming, Michelle E Kaupas, Erich Roessler, et al.
European Journal of Human Genetics : EJHG|March 5, 2015
Syndromic X-linked intellectual disability segregating with a missense variant in RLIMElin Tønne, Rita Holdhus, Christine Stansberg, et al.
Familial Cancer|September 27, 2013
More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counselingAisha S Sie, Wendy A G van Zelst-Stams, Liesbeth Spruijt, et al.
Plos Computational Biology|April 28, 2010
Accurate distinction of pathogenic from benign CNVs in mental retardationJayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, et al.
Pageof 32

Showing results (51-60 of 318) with videos related to

Sort By:
Pageof 32
American Journal of Human Genetics|December 23, 2022
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disordersLaurens Wiel, Juliet E Hampstead, Hanka Venselaar, et al.
Human Molecular Genetics|April 4, 2002
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63Pascal H G Duijf, Kaate R J Vanmolkot, Peter Propping, et al.
American Journal of Human Genetics|September 5, 2017
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated GenesStefan H Lelieveld, Laurens Wiel, Hanka Venselaar, et al.
Genes, Brain, and Behavior|July 9, 2021
Speech-language profiles in the context of cognitive and adaptive functioning in SATB2-associated syndromeLot Snijders Blok, Y Max Goosen, Leenke van Haaften, et al.
American Journal of Medical Genetics. Part A|July 17, 2007
Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic mapIlse Feenstra, Lisenka E L M Vissers, Mirjam Orsel, et al.
BMC Women'S Health|May 10, 2012
DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-directAisha S Sie, Liesbeth Spruijt, Wendy A G van Zelst-Stams, et al.
Human Genetics|April 10, 2002
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephalyJeffrey E Ming, Michelle E Kaupas, Erich Roessler, et al.
European Journal of Human Genetics : EJHG|March 5, 2015
Syndromic X-linked intellectual disability segregating with a missense variant in RLIMElin Tønne, Rita Holdhus, Christine Stansberg, et al.
Familial Cancer|September 27, 2013
More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counselingAisha S Sie, Wendy A G van Zelst-Stams, Liesbeth Spruijt, et al.
Plos Computational Biology|April 28, 2010
Accurate distinction of pathogenic from benign CNVs in mental retardationJayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, et al.
Pageof 32