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Han G Brunner

Showing results (271-280 of 318) with videos related to

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Human Mutation|November 12, 2014
Variants in CUL4B are associated with cerebral malformationsAnneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Journal of Medical Genetics|August 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148</i> mutationsKatalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, et al.
American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
Genome Research|March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, et al.
American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
American Journal of Human Genetics|June 3, 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin DysfunctionMichele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 7, 2016
AGORA, a data- and biobank for birth defects and childhood cancerIris A L M van Rooij, Loes F M van der Zanden, Ernie M H F Bongers, et al.
Pageof 32

Showing results (271-280 of 318) with videos related to

Sort By:
Pageof 32
Human Mutation|November 12, 2014
Variants in CUL4B are associated with cerebral malformationsAnneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Journal of Medical Genetics|August 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148</i> mutationsKatalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, et al.
American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
Genome Research|March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, et al.
American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
American Journal of Human Genetics|June 3, 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin DysfunctionMichele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 7, 2016
AGORA, a data- and biobank for birth defects and childhood cancerIris A L M van Rooij, Loes F M van der Zanden, Ernie M H F Bongers, et al.
Pageof 32