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L Faivre

Showing results (121-130 of 131) with videos related to

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Molecular Psychiatry|May 12, 2016
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disordersO Mercati, G Huguet, A Danckaert, et al.
Clinical Genetics|March 16, 2013
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective studyN Marle, D Martinet, A Aboura, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2018
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathyF Tran Mau-Them, L Guibaud, L Duplomb, et al.
Journal of Medical Genetics|November 3, 2009
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screeningC Thauvin-Robinet, A Munck, F Huet, et al.
Clinical Genetics|October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.
European Journal of Endocrinology|September 23, 2015
Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines studyJ Thevenon, A Bourredjem, L Faivre, et al.
Clinical Genetics|October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.
Clinical Genetics|March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disabilityP Callier, B Aral, N Hanna, et al.
Neurogenetics|March 8, 2018
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotypeT Smol, F Petit, A Piton, et al.
Clinical Genetics|November 20, 2015
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national surveyM Lefebvre, D Sanlaville, N Marle, et al.
Pageof 14

Showing results (121-130 of 131) with videos related to

Sort By:
Pageof 14
Molecular Psychiatry|May 12, 2016
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disordersO Mercati, G Huguet, A Danckaert, et al.
Clinical Genetics|March 16, 2013
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective studyN Marle, D Martinet, A Aboura, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2018
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathyF Tran Mau-Them, L Guibaud, L Duplomb, et al.
Journal of Medical Genetics|November 3, 2009
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screeningC Thauvin-Robinet, A Munck, F Huet, et al.
Clinical Genetics|October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.
European Journal of Endocrinology|September 23, 2015
Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines studyJ Thevenon, A Bourredjem, L Faivre, et al.
Clinical Genetics|October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.
Clinical Genetics|March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disabilityP Callier, B Aral, N Hanna, et al.
Neurogenetics|March 8, 2018
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotypeT Smol, F Petit, A Piton, et al.
Clinical Genetics|November 20, 2015
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national surveyM Lefebvre, D Sanlaville, N Marle, et al.
Pageof 14