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Judith Melki

Showing results (31-40 of 79) with videos related to

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The American Journal of Pathology|October 29, 2004
Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overloadJérémie M Vitte, Bénédicte Davoult, Natacha Roblot, et al.
Brain : a Journal of Neurology|January 26, 2006
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3Stephan Klebe, Hamid Azzedine, Alexandra Durr, et al.
Neurology|February 27, 2015
Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiencyGoknur Haliloglu, Jérome Maluenda, Bahattin Sayinbatur, et al.
Journal of Child Neurology|August 19, 2021
Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 PatientsJudith Chareyre, Antoine Neuraz, Alina Badina, et al.
Journal of Medical Genetics|April 20, 2023
Biallelic <i>NPR1</i> loss of function variants are responsible for neonatal systemic hypertensionYline Capri, Theresa Kwon, Olivia Boyer, et al.
Journal of Medical Genetics|September 15, 2020
De novo mutations of <i>SCN1A</i> are responsible for arthrogryposis broadening the <i>SCN1A</i>-related phenotypesDana Jaber, Cyril Gitiaux, Sophie Blesson, et al.
Molecular and Cellular Biology|August 18, 2006
New role for serum response factor in postnatal skeletal muscle growth and regeneration via the interleukin 4 and insulin-like growth factor 1 pathwaysClaude Charvet, Christophe Houbron, Ara Parlakian, et al.
Human Molecular Genetics|October 11, 2017
Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposisEmanuela Abiusi, Manuela D'Alessandro, Klaus Dieterich, et al.
Disease Models & Mechanisms|July 10, 2012
Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout miceCoralie Fassier, Anne Tarrade, Leticia Peris, et al.
American Journal of Human Genetics|December 27, 2008
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcificationsRuth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, et al.
Pageof 8

Showing results (31-40 of 79) with videos related to

Sort By:
Pageof 8
The American Journal of Pathology|October 29, 2004
Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overloadJérémie M Vitte, Bénédicte Davoult, Natacha Roblot, et al.
Brain : a Journal of Neurology|January 26, 2006
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3Stephan Klebe, Hamid Azzedine, Alexandra Durr, et al.
Neurology|February 27, 2015
Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiencyGoknur Haliloglu, Jérome Maluenda, Bahattin Sayinbatur, et al.
Journal of Child Neurology|August 19, 2021
Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 PatientsJudith Chareyre, Antoine Neuraz, Alina Badina, et al.
Journal of Medical Genetics|April 20, 2023
Biallelic <i>NPR1</i> loss of function variants are responsible for neonatal systemic hypertensionYline Capri, Theresa Kwon, Olivia Boyer, et al.
Journal of Medical Genetics|September 15, 2020
De novo mutations of <i>SCN1A</i> are responsible for arthrogryposis broadening the <i>SCN1A</i>-related phenotypesDana Jaber, Cyril Gitiaux, Sophie Blesson, et al.
Molecular and Cellular Biology|August 18, 2006
New role for serum response factor in postnatal skeletal muscle growth and regeneration via the interleukin 4 and insulin-like growth factor 1 pathwaysClaude Charvet, Christophe Houbron, Ara Parlakian, et al.
Human Molecular Genetics|October 11, 2017
Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposisEmanuela Abiusi, Manuela D'Alessandro, Klaus Dieterich, et al.
Disease Models & Mechanisms|July 10, 2012
Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout miceCoralie Fassier, Anne Tarrade, Leticia Peris, et al.
American Journal of Human Genetics|December 27, 2008
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcificationsRuth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, et al.
Pageof 8