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Odile Boute

Showing results (41-50 of 75) with videos related to

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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.
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.
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.
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.
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.
Prenatal Diagnosis|November 14, 2024
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal DiagnosisMaud Favier, Elise Brischoux-Boucher, Louise C Pyle, et al.
European Journal of Medical Genetics|January 18, 2015
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patientsClémence Vanlerberghe, Florence Petit, Valérie Malan, 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CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signatureFlavien Rouxel, Raissa Relator, Jennifer Kerkhof, et al.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 8

Showing results (41-50 of 75) with videos related to

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Pageof 8
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.
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.
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.
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.
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.
Prenatal Diagnosis|November 14, 2024
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal DiagnosisMaud Favier, Elise Brischoux-Boucher, Louise C Pyle, et al.
European Journal of Medical Genetics|January 18, 2015
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patientsClémence Vanlerberghe, Florence Petit, Valérie Malan, 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.
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