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Koen Devriendt

Showing results (131-140 of 183) with videos related to

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Human Molecular Genetics|November 20, 2012
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1Anne M Slavotinek, Pavni Mehrotra, Irina Nazarenko, et al.
American Journal of Human Genetics|September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope IntegrityFrancesca Cristofoli, Tonya Moss, Hannah W Moore, et al.
American Journal of Human Genetics|April 17, 2007
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Christiane Zweier, Maarit M Peippo, Juliane Hoyer, et al.
American Journal of Human Genetics|April 23, 2019
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and HypogonadismHilde Van Esch, Rita Colnaghi, Kathleen Freson, et al.
Human Molecular Genetics|January 15, 2010
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesiclesDries Castermans, Karolien Volders, An Crepel, et al.
American Journal of Medical Genetics. Part A|August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotypeChris Balak, Newell Belnap, Keri Ramsey, et al.
American Journal of Human Genetics|January 17, 2003
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationElfride De Baere, Diane Beysen, Christine Oley, et al.
Nature Genetics|July 17, 2007
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesSibel Kantarci, Lihadh Al-Gazali, R Sean Hill, et al.
Genes|December 11, 2019
Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports <i>SH3PXD2A</i> as a Clefting Susceptibility GeneIris Alm van Rooij, Kerstin U Ludwig, Julia Welzenbach, et al.
Human Molecular Genetics|December 30, 2019
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic originsLisanne Vervoort, Wolfram Demaerel, Laura Y Rengifo, et al.
Pageof 19

Showing results (131-140 of 183) with videos related to

Sort By:
Pageof 19
Human Molecular Genetics|November 20, 2012
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1Anne M Slavotinek, Pavni Mehrotra, Irina Nazarenko, et al.
American Journal of Human Genetics|September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope IntegrityFrancesca Cristofoli, Tonya Moss, Hannah W Moore, et al.
American Journal of Human Genetics|April 17, 2007
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Christiane Zweier, Maarit M Peippo, Juliane Hoyer, et al.
American Journal of Human Genetics|April 23, 2019
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and HypogonadismHilde Van Esch, Rita Colnaghi, Kathleen Freson, et al.
Human Molecular Genetics|January 15, 2010
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesiclesDries Castermans, Karolien Volders, An Crepel, et al.
American Journal of Medical Genetics. Part A|August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotypeChris Balak, Newell Belnap, Keri Ramsey, et al.
American Journal of Human Genetics|January 17, 2003
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationElfride De Baere, Diane Beysen, Christine Oley, et al.
Nature Genetics|July 17, 2007
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesSibel Kantarci, Lihadh Al-Gazali, R Sean Hill, et al.
Genes|December 11, 2019
Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports <i>SH3PXD2A</i> as a Clefting Susceptibility GeneIris Alm van Rooij, Kerstin U Ludwig, Julia Welzenbach, et al.
Human Molecular Genetics|December 30, 2019
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic originsLisanne Vervoort, Wolfram Demaerel, Laura Y Rengifo, et al.
Pageof 19