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Valérie Layet

Showing results (21-30 of 38) with videos related to

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Journal of the American Society of Nephrology : JASN|April 14, 2006
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 geneRosa Vargas-Poussou, Pascal Houillier, Nelly Le Pottier, et al.
Archives of General Psychiatry|September 9, 2009
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardationAudrey Guilmatre, Christèle Dubourg, Anne-Laure Mosca, et al.
Clinical Genetics|July 5, 2020
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate geneClarisse Billon, Arnaud Molin, Céline Poirsier, et al.
Human Mutation|February 15, 2020
Exome sequencing identifies the first genetic determinants of sirenomelia in humansFrançois Lecoquierre, Anne-Claire Brehin, Sophie Coutant, et al.
Human Molecular Genetics|December 1, 2006
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndromeGrégory Raux, Emilie Bumsel, Bernadette Hecketsweiler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2020
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineationSolveig Heide, Myrtille Spentchian, Stéphanie Valence, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 28, 2017
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndromeMarine Legendre, Véronique Abadie, Tania Attié-Bitach, et al.
Brain : a Journal of Neurology|January 25, 2018
De novo mutations in GRIN1 cause extensive bilateral polymicrogyriaAndrew E Fry, Katherine A Fawcett, Nathanel Zelnik, et al.
Cancers|July 2, 2021
Severe Phenotype in Patients with Large Deletions of <i>NF1</i>Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2015
Treacher Collins syndrome: a clinical and molecular study based on a large series of patientsMarie Vincent, David Geneviève, Agnès Ostertag, et al.
Pageof 4

Showing results (21-30 of 38) with videos related to

Sort By:
Pageof 4
Journal of the American Society of Nephrology : JASN|April 14, 2006
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 geneRosa Vargas-Poussou, Pascal Houillier, Nelly Le Pottier, et al.
Archives of General Psychiatry|September 9, 2009
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardationAudrey Guilmatre, Christèle Dubourg, Anne-Laure Mosca, et al.
Clinical Genetics|July 5, 2020
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate geneClarisse Billon, Arnaud Molin, Céline Poirsier, et al.
Human Mutation|February 15, 2020
Exome sequencing identifies the first genetic determinants of sirenomelia in humansFrançois Lecoquierre, Anne-Claire Brehin, Sophie Coutant, et al.
Human Molecular Genetics|December 1, 2006
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndromeGrégory Raux, Emilie Bumsel, Bernadette Hecketsweiler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2020
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineationSolveig Heide, Myrtille Spentchian, Stéphanie Valence, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 28, 2017
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndromeMarine Legendre, Véronique Abadie, Tania Attié-Bitach, et al.
Brain : a Journal of Neurology|January 25, 2018
De novo mutations in GRIN1 cause extensive bilateral polymicrogyriaAndrew E Fry, Katherine A Fawcett, Nathanel Zelnik, et al.
Cancers|July 2, 2021
Severe Phenotype in Patients with Large Deletions of <i>NF1</i>Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2015
Treacher Collins syndrome: a clinical and molecular study based on a large series of patientsMarie Vincent, David Geneviève, Agnès Ostertag, et al.
Pageof 4