P Jonveaux - JoVE Visualize

Showing results (81-90 of 99) with videos related to

Pageof 10

Sort By:

Leukemia|January 1, 1992

Mutations of the p53 gene in B-cell lymphoblastic acute leukemia: a report on 60 casesP Fenaux, P Jonveaux, I Quiquandon, et al.

European Journal of Medical Genetics|February 14, 2006

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular updateC Philippe, L Villard, N De Roux, et al.

Human Molecular Genetics|May 18, 2000

MECP2 mutations account for most cases of typical forms of Rett syndromeT Bienvenu, A Carrié, N de Roux, et al.

Gynecologie, Obstetrique, Fertilite & Senologie|February 15, 2020

[Adverse obstetric and perinatal outcome with in vitro fertilization technology: A French nationwide population-based study]F Pessione, J De Mouzon, A Deveaux, et al.

Clinical Genetics|October 2, 2009

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literatureC Nemos, L Lambert, F Giuliano, et al.

Human Mutation|December 8, 2004

DNMT3B mutations and DNA methylation defect define two types of ICF syndromeY L Jiang, M Rigolet, D Bourc'his, et al.

Journal of Medical Genetics|November 13, 2007

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathyH Rosas-Vargas, N Bahi-Buisson, C Philippe, et al.

Clinical Genetics|April 11, 2016

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related diseaseL Allou, S Julia, D Amsallem, et al.

Human Mutation|September 23, 1998

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.

JIMD Reports|January 29, 2015

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic MarkersS El Chehadeh, C Bonnet, P Callier, et al.

Pageof 10

Showing results (81-90 of 99) with videos related to

Sort By:

Pageof 10

Leukemia|January 1, 1992

Mutations of the p53 gene in B-cell lymphoblastic acute leukemia: a report on 60 casesP Fenaux, P Jonveaux, I Quiquandon, et al.

European Journal of Medical Genetics|February 14, 2006

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular updateC Philippe, L Villard, N De Roux, et al.

Human Molecular Genetics|May 18, 2000

MECP2 mutations account for most cases of typical forms of Rett syndromeT Bienvenu, A Carrié, N de Roux, et al.

Gynecologie, Obstetrique, Fertilite & Senologie|February 15, 2020

[Adverse obstetric and perinatal outcome with in vitro fertilization technology: A French nationwide population-based study]F Pessione, J De Mouzon, A Deveaux, et al.

Clinical Genetics|October 2, 2009

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literatureC Nemos, L Lambert, F Giuliano, et al.

Human Mutation|December 8, 2004

DNMT3B mutations and DNA methylation defect define two types of ICF syndromeY L Jiang, M Rigolet, D Bourc'his, et al.

Journal of Medical Genetics|November 13, 2007

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathyH Rosas-Vargas, N Bahi-Buisson, C Philippe, et al.

Clinical Genetics|April 11, 2016

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related diseaseL Allou, S Julia, D Amsallem, et al.

Human Mutation|September 23, 1998

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.

JIMD Reports|January 29, 2015

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic MarkersS El Chehadeh, C Bonnet, P Callier, et al.

Pageof 10