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Annick Toutain

Showing results (11-20 of 185) with videos related to

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American Journal of Medical Genetics. Part A|October 27, 2022
X-Linked intellectual disability update 2022Charles E Schwartz, Raymond J Louie, Annick Toutain, et al.
American Journal of Human Genetics|June 15, 2006
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndromeAnne-Louise Leutenegger, Audrey Labalme, Emmanuelle Genin, et al.
European Journal of Human Genetics : EJHG|January 27, 2019
CUGC for Simpson-Golabi-Behmel syndrome (SGBS)Marie-Laure Vuillaume, Marie-Pierre Moizard, Alessandra Baumer, et al.
American Journal of Medical Genetics. Part A|January 16, 2007
Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvementNicolas Chassaing, Brigitte Gilbert-Dussardier, Florence Nicot, et al.
Molecular Genetics and Metabolism Reports|February 21, 2025
Camptocormia as a feature of Mc Ardle's disease: A case reportMathilde Nicolas, Chloé Giret, Sybille Pellieux, et al.
Journal of the Peripheral Nervous System : JPNS|October 10, 2019
Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B geneCatarina Falcão de Campos, Marie Vidailhet, Annick Toutain, et al.
Prenatal Diagnosis|September 12, 2002
Fetal fibrochondrogenesis at 26 weeks' gestationHanitra Randrianaivo, Georges Haddad, Horatiu Roman, et al.
Neurogenetics|July 28, 2009
Identification of CACNA1A large deletions in four patients with episodic ataxiaFlorence Riant, Christelle Lescoat, Katayoun Vahedi, et al.
European Journal of Human Genetics : EJHG|February 10, 2007
Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'Mylène Béri-Deixheimer, Marie-José Gregoire, Annick Toutain, et al.
European Journal of Medical Genetics|November 25, 2010
Crane-Heise syndrome: two further case reportsFlorence Petit, Louise Devisme, Annick Toutain, et al.
Pageof 19

Showing results (11-20 of 185) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics. Part A|October 27, 2022
X-Linked intellectual disability update 2022Charles E Schwartz, Raymond J Louie, Annick Toutain, et al.
American Journal of Human Genetics|June 15, 2006
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndromeAnne-Louise Leutenegger, Audrey Labalme, Emmanuelle Genin, et al.
European Journal of Human Genetics : EJHG|January 27, 2019
CUGC for Simpson-Golabi-Behmel syndrome (SGBS)Marie-Laure Vuillaume, Marie-Pierre Moizard, Alessandra Baumer, et al.
American Journal of Medical Genetics. Part A|January 16, 2007
Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvementNicolas Chassaing, Brigitte Gilbert-Dussardier, Florence Nicot, et al.
Molecular Genetics and Metabolism Reports|February 21, 2025
Camptocormia as a feature of Mc Ardle's disease: A case reportMathilde Nicolas, Chloé Giret, Sybille Pellieux, et al.
Journal of the Peripheral Nervous System : JPNS|October 10, 2019
Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B geneCatarina Falcão de Campos, Marie Vidailhet, Annick Toutain, et al.
Prenatal Diagnosis|September 12, 2002
Fetal fibrochondrogenesis at 26 weeks' gestationHanitra Randrianaivo, Georges Haddad, Horatiu Roman, et al.
Neurogenetics|July 28, 2009
Identification of CACNA1A large deletions in four patients with episodic ataxiaFlorence Riant, Christelle Lescoat, Katayoun Vahedi, et al.
European Journal of Human Genetics : EJHG|February 10, 2007
Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'Mylène Béri-Deixheimer, Marie-José Gregoire, Annick Toutain, et al.
European Journal of Medical Genetics|November 25, 2010
Crane-Heise syndrome: two further case reportsFlorence Petit, Louise Devisme, Annick Toutain, et al.
Pageof 19