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C Dubourg

Showing results (21-30 of 28) with videos related to

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Molecular Syndromology|April 10, 2014
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 DeletionsC Dubourg, F Bonnet-Brilhault, A Toutain, et al.
European Journal of Medical Genetics|March 22, 2023
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samplesL Mary, M Fradin, L Pasquier, et al.
Clinical Genetics|March 3, 2018
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephalyA-L Bruel, J Thevenon, F Huet, et al.
Molecular Syndromology|October 30, 2013
Array-CGH Analysis Suggests Genetic Heterogeneity in RhombencephalosynapsisF Démurger, L Pasquier, C Dubourg, et al.
Journal of Medical Genetics|July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformationsN Le Meur, M Holder-Espinasse, S Jaillard, et al.
Clinical Genetics|July 15, 2017
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patientsE Chérot, B Keren, C Dubourg, et al.
Clinical Genetics|March 19, 2010
Delineation of 15q13.3 microdeletionsA Masurel-Paulet, J Andrieux, P Callier, et al.
Genetics in Medicine Open|December 13, 2024
<i>ARID1B</i>-related disorder in 87 adults: Natural history and self-sustainabilityP J van der Sluijs, M Gösgens, A J M Dingemans, et al.
Pageof 3

Showing results (21-30 of 28) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 28 results.
Molecular Syndromology|April 10, 2014
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 DeletionsC Dubourg, F Bonnet-Brilhault, A Toutain, et al.
European Journal of Medical Genetics|March 22, 2023
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samplesL Mary, M Fradin, L Pasquier, et al.
Clinical Genetics|March 3, 2018
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephalyA-L Bruel, J Thevenon, F Huet, et al.
Molecular Syndromology|October 30, 2013
Array-CGH Analysis Suggests Genetic Heterogeneity in RhombencephalosynapsisF Démurger, L Pasquier, C Dubourg, et al.
Journal of Medical Genetics|July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformationsN Le Meur, M Holder-Espinasse, S Jaillard, et al.
Clinical Genetics|July 15, 2017
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patientsE Chérot, B Keren, C Dubourg, et al.
Clinical Genetics|March 19, 2010
Delineation of 15q13.3 microdeletionsA Masurel-Paulet, J Andrieux, P Callier, et al.
Genetics in Medicine Open|December 13, 2024
<i>ARID1B</i>-related disorder in 87 adults: Natural history and self-sustainabilityP J van der Sluijs, M Gösgens, A J M Dingemans, et al.
Pageof 3