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Stanislas Lyonnet

Showing results (51-60 of 260) with videos related to

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American Journal of Respiratory and Critical Care Medicine|December 15, 2007
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndromeDelphine Trochet, Loïc de Pontual, Christian Straus, et al.
Plos One|February 4, 2012
ISL1 directly regulates FGF10 transcription during human cardiac outflow formationChristelle Golzio, Emmanuelle Havis, Philippe Daubas, et al.
European Journal of Human Genetics : EJHG|April 21, 2011
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletionsSarah Vergult, Danijela Krgovic, Bart Loeys, et al.
Human Molecular Genetics|August 8, 2002
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palateMireille Castanet, Soo-Mi Park, Aaron Smith, et al.
American Journal of Human Genetics|March 5, 2004
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndromeGeneviève Baujat, Marlène Rio, Sylvie Rossignol, et al.
Prenatal Diagnosis|April 6, 2004
Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosumYolanda Espinosa-Parrilla, Férechté Encha-Razavi, Tania Attié-Bitach, et al.
Plos One|February 6, 2013
Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxiaSimonetta Bandiera, François Cartault, Anne-Sophie Jannot, et al.
American Journal of Medical Genetics. Part A|July 22, 2004
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literatureD Geneviève, J Amiel, G Viot, et al.
European Journal of Human Genetics : EJHG|November 18, 2004
Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genesMireille Castanet, Sylvia Sura-Trueba, Anne Chauty, et al.
Human Molecular Genetics|October 27, 2005
Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunctionDelphine Trochet, Seok Jong Hong, Jin Kyu Lim, et al.
Pageof 26

Showing results (51-60 of 260) with videos related to

Sort By:
Pageof 26
American Journal of Respiratory and Critical Care Medicine|December 15, 2007
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndromeDelphine Trochet, Loïc de Pontual, Christian Straus, et al.
Plos One|February 4, 2012
ISL1 directly regulates FGF10 transcription during human cardiac outflow formationChristelle Golzio, Emmanuelle Havis, Philippe Daubas, et al.
European Journal of Human Genetics : EJHG|April 21, 2011
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletionsSarah Vergult, Danijela Krgovic, Bart Loeys, et al.
Human Molecular Genetics|August 8, 2002
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palateMireille Castanet, Soo-Mi Park, Aaron Smith, et al.
American Journal of Human Genetics|March 5, 2004
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndromeGeneviève Baujat, Marlène Rio, Sylvie Rossignol, et al.
Prenatal Diagnosis|April 6, 2004
Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosumYolanda Espinosa-Parrilla, Férechté Encha-Razavi, Tania Attié-Bitach, et al.
Plos One|February 6, 2013
Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxiaSimonetta Bandiera, François Cartault, Anne-Sophie Jannot, et al.
American Journal of Medical Genetics. Part A|July 22, 2004
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literatureD Geneviève, J Amiel, G Viot, et al.
European Journal of Human Genetics : EJHG|November 18, 2004
Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genesMireille Castanet, Sylvia Sura-Trueba, Anne Chauty, et al.
Human Molecular Genetics|October 27, 2005
Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunctionDelphine Trochet, Seok Jong Hong, Jin Kyu Lim, et al.
Pageof 26