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Stanislas Lyonnet

Showing results (41-50 of 260) with videos related to

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American Journal of Medical Genetics. Part A|September 14, 2007
Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pterNicolas Gruchy, Marie-Line Jacquemont, Stanislas Lyonnet, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 15, 2013
Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studiesDavid E Clouthier, Maria Rita Passos-Bueno, Andre L P Tavares, et al.
Orphanet Journal of Rare Diseases|April 18, 2020
Diagnosis support systems for rare diseases: a scoping reviewCarole Faviez, Xiaoyi Chen, Nicolas Garcelon, et al.
The Journal of Clinical Endocrinology and Metabolism|November 3, 2005
Noonan syndrome: relationships between genotype, growth, and growth factorsJean-Marie Limal, Béatrice Parfait, Sylvie Cabrol, et al.
Mechanisms of Development|August 15, 2002
Expression of the SMADIP1 gene during early human developmentYolanda Espinosa-Parrilla, Jeanne Amiel, Joëlle Augé, et al.
Plos One|June 23, 2011
Nuclear outsourcing of RNA interference components to human mitochondriaSimonetta Bandiera, Silvia Rüberg, Muriel Girard, et al.
Human Mutation|April 15, 2008
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse)Delphine Trochet, Loïc de Pontual, Maria Helena Estêvao, et al.
Human Mutation|March 24, 2009
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease associationStacey Arnold, Anna Pelet, Jeanne Amiel, et al.
Rheumatology (Oxford, England)|November 15, 2019
Comment on: Monogenic mimics of Behçet's disease in the youngFlorence A Aeschlimann, Marie-Claude Stolzenberg, Frédéric Rieux-Laucat, et al.
Human Mutation|December 6, 2008
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilationDelphine Trochet, Yves Mathieu, Loïc de Pontual, et al.
Pageof 26

Showing results (41-50 of 260) with videos related to

Sort By:
Pageof 26
American Journal of Medical Genetics. Part A|September 14, 2007
Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pterNicolas Gruchy, Marie-Line Jacquemont, Stanislas Lyonnet, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 15, 2013
Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studiesDavid E Clouthier, Maria Rita Passos-Bueno, Andre L P Tavares, et al.
Orphanet Journal of Rare Diseases|April 18, 2020
Diagnosis support systems for rare diseases: a scoping reviewCarole Faviez, Xiaoyi Chen, Nicolas Garcelon, et al.
The Journal of Clinical Endocrinology and Metabolism|November 3, 2005
Noonan syndrome: relationships between genotype, growth, and growth factorsJean-Marie Limal, Béatrice Parfait, Sylvie Cabrol, et al.
Mechanisms of Development|August 15, 2002
Expression of the SMADIP1 gene during early human developmentYolanda Espinosa-Parrilla, Jeanne Amiel, Joëlle Augé, et al.
Plos One|June 23, 2011
Nuclear outsourcing of RNA interference components to human mitochondriaSimonetta Bandiera, Silvia Rüberg, Muriel Girard, et al.
Human Mutation|April 15, 2008
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse)Delphine Trochet, Loïc de Pontual, Maria Helena Estêvao, et al.
Human Mutation|March 24, 2009
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease associationStacey Arnold, Anna Pelet, Jeanne Amiel, et al.
Rheumatology (Oxford, England)|November 15, 2019
Comment on: Monogenic mimics of Behçet's disease in the youngFlorence A Aeschlimann, Marie-Claude Stolzenberg, Frédéric Rieux-Laucat, et al.
Human Mutation|December 6, 2008
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilationDelphine Trochet, Yves Mathieu, Loïc de Pontual, et al.
Pageof 26