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Didier Lacombe

Showing results (31-40 of 309) with videos related to

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European Journal of Human Genetics : EJHG|March 25, 2025
Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrumAngèle Sequeira, Thomas Sagardoy, Laetitia Bourgeade, et al.
Pigment Cell & Melanoma Research|September 30, 2008
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspectsCaroline Rooryck, Fanny Morice-Picard, Nursel H Elçioglu, et al.
The Pan African Medical Journal|October 2, 2012
[Costello syndrome: report of a case]Mariam Tajir, Patricia Fergelot, Gwenaelle Lancelot, et al.
European Journal of Human Genetics : EJHG|July 29, 2010
Rubinstein-Taybi syndrome (CREBBP, EP300)Martine van Belzen, Oliver Bartsch, Didier Lacombe, et al.
Gene|January 29, 2013
Germline mosaicism in Rubinstein-Taybi syndromeMariam Tajir, Patricia Fergelot, Guenaelle Lancelot, et al.
European Journal of Medical Genetics|November 21, 2007
A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformationCaroline Rooryck, Ingrid Burgelin, Marianne Stef, et al.
Human Mutation|February 20, 2004
Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCRIsabelle Coupry, Laurence Monnet, Azza Abd El Moneim Attia, et al.
Clinical Dysmorphology|June 7, 2007
A new case of VACTERL association with unilateral amelia of upper limbFanny Pelluard-Nehmé, Christel Baudet, Dominique Carles, et al.
Annales De Genetique|June 24, 2003
A patient with hydranencephaly and PEHO-like dysmorphic featuresCyril Goizet, Caroline Espil-Taris, Marie Husson, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropeniaAkio Tanaka, Fanny Morice-Picard, Didier Lacombe, et al.
Pageof 31

Showing results (31-40 of 309) with videos related to

Sort By:
Pageof 31
European Journal of Human Genetics : EJHG|March 25, 2025
Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrumAngèle Sequeira, Thomas Sagardoy, Laetitia Bourgeade, et al.
Pigment Cell & Melanoma Research|September 30, 2008
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspectsCaroline Rooryck, Fanny Morice-Picard, Nursel H Elçioglu, et al.
The Pan African Medical Journal|October 2, 2012
[Costello syndrome: report of a case]Mariam Tajir, Patricia Fergelot, Gwenaelle Lancelot, et al.
European Journal of Human Genetics : EJHG|July 29, 2010
Rubinstein-Taybi syndrome (CREBBP, EP300)Martine van Belzen, Oliver Bartsch, Didier Lacombe, et al.
Gene|January 29, 2013
Germline mosaicism in Rubinstein-Taybi syndromeMariam Tajir, Patricia Fergelot, Guenaelle Lancelot, et al.
European Journal of Medical Genetics|November 21, 2007
A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformationCaroline Rooryck, Ingrid Burgelin, Marianne Stef, et al.
Human Mutation|February 20, 2004
Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCRIsabelle Coupry, Laurence Monnet, Azza Abd El Moneim Attia, et al.
Clinical Dysmorphology|June 7, 2007
A new case of VACTERL association with unilateral amelia of upper limbFanny Pelluard-Nehmé, Christel Baudet, Dominique Carles, et al.
Annales De Genetique|June 24, 2003
A patient with hydranencephaly and PEHO-like dysmorphic featuresCyril Goizet, Caroline Espil-Taris, Marie Husson, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropeniaAkio Tanaka, Fanny Morice-Picard, Didier Lacombe, et al.
Pageof 31