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Showing results (191-200 of 232) with videos related to

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Nature Genetics|October 16, 2019
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetranceRebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2022
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid featuresUwe Kornak, Namrata Saha, Boris Keren, et al.
Journal of Medical Genetics|November 29, 2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon, Florence Petit, Myriam Oufadem, et al.
Molecular Psychiatry|November 25, 2025
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitroFlorence Desprez, Solène Remize, Liberty François-Moutal, et al.
Clinical Genetics|March 19, 2010
Delineation of 15q13.3 microdeletionsA Masurel-Paulet, J Andrieux, P Callier, et al.
Clinical Genetics|December 6, 2021
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosumRoseline Vibert, Cyril Mignot, Boris Keren, et al.
European Journal of Human Genetics : EJHG|April 16, 2009
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defectsEmma Hilton, Jennifer Johnston, Sandra Whalen, et al.
American Journal of Medical Genetics. Part A|November 27, 2014
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literatureMathilde Nizon, Joris Andrieux, Caroline Rooryck, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2022
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signatureFlavien Rouxel, Raissa Relator, Jennifer Kerkhof, et al.
Pageof 24

Showing results (191-200 of 232) with videos related to

Sort By:
Pageof 24
Nature Genetics|October 16, 2019
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetranceRebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2022
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid featuresUwe Kornak, Namrata Saha, Boris Keren, et al.
Journal of Medical Genetics|November 29, 2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon, Florence Petit, Myriam Oufadem, et al.
Molecular Psychiatry|November 25, 2025
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitroFlorence Desprez, Solène Remize, Liberty François-Moutal, et al.
Clinical Genetics|March 19, 2010
Delineation of 15q13.3 microdeletionsA Masurel-Paulet, J Andrieux, P Callier, et al.
Clinical Genetics|December 6, 2021
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosumRoseline Vibert, Cyril Mignot, Boris Keren, et al.
European Journal of Human Genetics : EJHG|April 16, 2009
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defectsEmma Hilton, Jennifer Johnston, Sandra Whalen, et al.
American Journal of Medical Genetics. Part A|November 27, 2014
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literatureMathilde Nizon, Joris Andrieux, Caroline Rooryck, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2022
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signatureFlavien Rouxel, Raissa Relator, Jennifer Kerkhof, et al.
Pageof 24