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Stanislas Lyonnet

Showing results (81-90 of 260) with videos related to

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American Journal of Medical Genetics. Part A|August 6, 2013
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutationsYasuhiro Kido, Christopher T Gordon, Satoru Sakazume, et al.
Clinical Genetics|June 28, 2024
HDR syndrome: Large cohort and systematic reviewNicolas Rive Le Gouard, Valentin Lafond-Rive, Laurence Jonard, et al.
Plos Genetics|June 2, 2015
Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafishShipra Bhatia, Christopher T Gordon, Robert G Foster, et al.
American Journal of Medical Genetics. Part A|November 5, 2003
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndromeLaurence Faivre, Hélène Dollfus, Stanislas Lyonnet, et al.
American Journal of Human Genetics|March 17, 2004
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastomaDelphine Trochet, Franck Bourdeaut, Isabelle Janoueix-Lerosey, et al.
Brain : a Journal of Neurology|November 19, 2004
A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12Alexander Lossos, Lekbir Baala, Dov Soffer, et al.
American Journal of Medical Genetics. Part A|January 30, 2023
An automatic facial landmarking for children with rare diseasesQuentin Hennocq, Thomas Bongibault, Matthieu Bizière, et al.
American Journal of Human Genetics|January 20, 2005
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndromeDelphine Trochet, Louise M O'Brien, David Gozal, et al.
Nature Genetics|March 18, 2003
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndromeJeanne Amiel, Béatrice Laudier, Tania Attié-Bitach, et al.
Molecular and Cellular Biology|March 24, 2010
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signalingThomas Edouard, Jean-Philippe Combier, Audrey Nédélec, et al.
Pageof 26

Showing results (81-90 of 260) with videos related to

Sort By:
Pageof 26
American Journal of Medical Genetics. Part A|August 6, 2013
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutationsYasuhiro Kido, Christopher T Gordon, Satoru Sakazume, et al.
Clinical Genetics|June 28, 2024
HDR syndrome: Large cohort and systematic reviewNicolas Rive Le Gouard, Valentin Lafond-Rive, Laurence Jonard, et al.
Plos Genetics|June 2, 2015
Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafishShipra Bhatia, Christopher T Gordon, Robert G Foster, et al.
American Journal of Medical Genetics. Part A|November 5, 2003
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndromeLaurence Faivre, Hélène Dollfus, Stanislas Lyonnet, et al.
American Journal of Human Genetics|March 17, 2004
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastomaDelphine Trochet, Franck Bourdeaut, Isabelle Janoueix-Lerosey, et al.
Brain : a Journal of Neurology|November 19, 2004
A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12Alexander Lossos, Lekbir Baala, Dov Soffer, et al.
American Journal of Medical Genetics. Part A|January 30, 2023
An automatic facial landmarking for children with rare diseasesQuentin Hennocq, Thomas Bongibault, Matthieu Bizière, et al.
American Journal of Human Genetics|January 20, 2005
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndromeDelphine Trochet, Louise M O'Brien, David Gozal, et al.
Nature Genetics|March 18, 2003
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndromeJeanne Amiel, Béatrice Laudier, Tania Attié-Bitach, et al.
Molecular and Cellular Biology|March 24, 2010
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signalingThomas Edouard, Jean-Philippe Combier, Audrey Nédélec, et al.
Pageof 26