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Bertrand Isidor

Showing results (171-180 of 365) with videos related to

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American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
Acta Neuropathologica Communications|September 18, 2021
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease courseValérie Biancalana, John Rendu, Annabelle Chaussenot, et al.
American Journal of Human Genetics|July 5, 2014
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of lifeJulien Thevenon, Mathieu Milh, François Feillet, et al.
Human Molecular Genetics|June 2, 2019
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesLina Liang, Xia Li, Sébastien Moutton, et al.
Journal of Medical Genetics|September 29, 2011
Phenotypic spectrum associated with CASK loss-of-function mutationsUte Moog, Kerstin Kutsche, Fanny Kortüm, et al.
Journal of Medical Genetics|May 7, 2013
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in DrosophilaMarjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, et al.
Life Science Alliance|January 5, 2024
<i>USP27X</i> variants underlying X-linked intellectual disability disrupt protein function via distinct mechanismsIntisar Koch, Maya Slovik, Yuling Zhang, et al.
Haematologica|May 5, 2018
Natural history of GATA2 deficiency in a survey of 79 French and Belgian patientsJean Donadieu, Marie Lamant, Claire Fieschi, et al.
American Journal of Human Genetics|November 7, 2020
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial FeaturesElizabeth E Palmer, Renee Carroll, Marie Shaw, et al.
Pageof 37

Showing results (171-180 of 365) with videos related to

Sort By:
Pageof 37
American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
Acta Neuropathologica Communications|September 18, 2021
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease courseValérie Biancalana, John Rendu, Annabelle Chaussenot, et al.
American Journal of Human Genetics|July 5, 2014
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of lifeJulien Thevenon, Mathieu Milh, François Feillet, et al.
Human Molecular Genetics|June 2, 2019
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesLina Liang, Xia Li, Sébastien Moutton, et al.
Journal of Medical Genetics|September 29, 2011
Phenotypic spectrum associated with CASK loss-of-function mutationsUte Moog, Kerstin Kutsche, Fanny Kortüm, et al.
Journal of Medical Genetics|May 7, 2013
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in DrosophilaMarjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, et al.
Life Science Alliance|January 5, 2024
<i>USP27X</i> variants underlying X-linked intellectual disability disrupt protein function via distinct mechanismsIntisar Koch, Maya Slovik, Yuling Zhang, et al.
Haematologica|May 5, 2018
Natural history of GATA2 deficiency in a survey of 79 French and Belgian patientsJean Donadieu, Marie Lamant, Claire Fieschi, et al.
American Journal of Human Genetics|November 7, 2020
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial FeaturesElizabeth E Palmer, Renee Carroll, Marie Shaw, et al.
Pageof 37