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L Faivre

Showing results (91-100 of 131) with videos related to

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American Journal of Medical Genetics. Part A|September 12, 2023
Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndromeE Viora-Dupont, A Denommé-Pichon, M Chevarin, et al.
European Journal of Medical Genetics|March 23, 2021
Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patientsS Nambot, C Sawka, G Bertolone, et al.
Clinical Genetics|February 4, 2017
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing dataS Nambot, D Gavrilov, J Thevenon, et al.
Journal of Medical Genetics|January 7, 2006
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyC Thauvin-Robinet, M Cossée, V Cormier-Daire, et al.
Clinical Genetics|April 11, 2016
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangiaJ Thevenon, L Duplomb, S Phadke, et al.
Prenatal Diagnosis|June 28, 2011
Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetusesA L Mosca, L Pinson, J Andrieux, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 18, 2009
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutationsG Solé, I Coupry, C Rooryck, et al.
Prenatal Diagnosis|November 14, 2012
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?F Coron, T Rousseau, G Jondeau, et al.
Blood|December 9, 2000
Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research GroupL Faivre, P Guardiola, C Lewis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2021
Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm studyM Luu, P Vabres, H Devilliers, et al.
Pageof 14

Showing results (91-100 of 131) with videos related to

Sort By:
Pageof 14
American Journal of Medical Genetics. Part A|September 12, 2023
Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndromeE Viora-Dupont, A Denommé-Pichon, M Chevarin, et al.
European Journal of Medical Genetics|March 23, 2021
Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patientsS Nambot, C Sawka, G Bertolone, et al.
Clinical Genetics|February 4, 2017
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing dataS Nambot, D Gavrilov, J Thevenon, et al.
Journal of Medical Genetics|January 7, 2006
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyC Thauvin-Robinet, M Cossée, V Cormier-Daire, et al.
Clinical Genetics|April 11, 2016
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangiaJ Thevenon, L Duplomb, S Phadke, et al.
Prenatal Diagnosis|June 28, 2011
Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetusesA L Mosca, L Pinson, J Andrieux, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 18, 2009
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutationsG Solé, I Coupry, C Rooryck, et al.
Prenatal Diagnosis|November 14, 2012
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?F Coron, T Rousseau, G Jondeau, et al.
Blood|December 9, 2000
Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research GroupL Faivre, P Guardiola, C Lewis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2021
Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm studyM Luu, P Vabres, H Devilliers, et al.
Pageof 14