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Muriel Holder-Espinasse

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The Journal of Hand Surgery, European Volume|November 2, 2018
Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot)Stéphane Guero, Muriel Holder-Espinasse
Clinical Dysmorphology|October 18, 2003
Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?Muriel Holder-Espinasse, Robin M Winter
Prenatal Diagnosis|October 11, 2024
The Challenges of Performing Exome Sequencing in Structurally Normal FetusesNatalie Chandler, Muriel Holder-Espinasse, Fionnuala Mone
European Journal of Human Genetics : EJHG|March 3, 2011
Clinical utility gene card for: 3M syndromeMuriel Holder-Espinasse, Melita Irving, Valérie Cormier-Daire
European Journal of Human Genetics : EJHG|August 1, 2013
Clinical utility gene card for: 3-M syndrome - update 2013Muriel Holder-Espinasse, Melita Irving, Valérie Cormier-Daire
Prenatal Diagnosis|May 28, 2025
Post-Axial Polydactyly and Postnatal Pulmonary Stenosis Observed With a SPRED1 Pathogenic VariantAlexander Gibbs, Muriel Holder-Espinasse, Vijaya Ramachandran, et al.
European Journal of Human Genetics : EJHG|May 30, 2003
Clinical and molecular analysis of nine families with Adams-Oliver syndromePieter Verdyck, Muriel Holder-Espinasse, Wim Van Hul, et al.
Epilepsia|October 31, 2009
Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasmsStéphane Auvin, Muriel Holder-Espinasse, Marie-Dominique Lamblin, et al.
European Journal of Human Genetics : EJHG|July 5, 2007
A new mutation in TP63 is associated with age-related pathologyMuriel Holder-Espinasse, Dominique Martin-Coignard, Fabienne Escande, et al.
American Journal of Medical Genetics. Part A|December 6, 2024
CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro VariantEszter Sara Arany, David Zocche, Jemima E Mellerio, et al.
Pageof 10

Showing results (1-10 of 91) with videos related to

Sort By:
Pageof 10
The Journal of Hand Surgery, European Volume|November 2, 2018
Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot)Stéphane Guero, Muriel Holder-Espinasse
Clinical Dysmorphology|October 18, 2003
Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?Muriel Holder-Espinasse, Robin M Winter
Prenatal Diagnosis|October 11, 2024
The Challenges of Performing Exome Sequencing in Structurally Normal FetusesNatalie Chandler, Muriel Holder-Espinasse, Fionnuala Mone
European Journal of Human Genetics : EJHG|March 3, 2011
Clinical utility gene card for: 3M syndromeMuriel Holder-Espinasse, Melita Irving, Valérie Cormier-Daire
European Journal of Human Genetics : EJHG|August 1, 2013
Clinical utility gene card for: 3-M syndrome - update 2013Muriel Holder-Espinasse, Melita Irving, Valérie Cormier-Daire
Prenatal Diagnosis|May 28, 2025
Post-Axial Polydactyly and Postnatal Pulmonary Stenosis Observed With a SPRED1 Pathogenic VariantAlexander Gibbs, Muriel Holder-Espinasse, Vijaya Ramachandran, et al.
European Journal of Human Genetics : EJHG|May 30, 2003
Clinical and molecular analysis of nine families with Adams-Oliver syndromePieter Verdyck, Muriel Holder-Espinasse, Wim Van Hul, et al.
Epilepsia|October 31, 2009
Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasmsStéphane Auvin, Muriel Holder-Espinasse, Marie-Dominique Lamblin, et al.
European Journal of Human Genetics : EJHG|July 5, 2007
A new mutation in TP63 is associated with age-related pathologyMuriel Holder-Espinasse, Dominique Martin-Coignard, Fabienne Escande, et al.
American Journal of Medical Genetics. Part A|December 6, 2024
CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro VariantEszter Sara Arany, David Zocche, Jemima E Mellerio, et al.
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