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European Journal of Medical Genetics
|
December 27, 2011
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype
Aurore Brun, Dorothée Cailley, Jérôme Toutain, et al.
European Journal of Medical Genetics
|
March 5, 2013
Prenatal diagnosis using array-CGH: a French experience
Caroline Rooryck, Jérôme Toutain, Dorothée Cailley, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2010
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum
Caroline Rooryck, Noui Souakri, Dorothée Cailley, et al.
European Journal of Medical Genetics
|
January 26, 2012
Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?
Sébastien Moutton, Caroline Rooryck, Jérôme Toutain, et al.
Pigment Cell & Melanoma Research
|
August 7, 2015
Albinism in a patient with mutations at both the OA1 and OCA3 loci
Fanny Morice-Picard, Eulalie Lasseaux, Claudio Plaisant, et al.
Cancer Genetics
|
July 19, 2011
Identification of a complex 17q rearrangement in a metanephric stromal tumor
Jérôme Toutain, Yen VuPhi, Martine Doco-Fenzy, et al.
Pigment Cell & Melanoma Research
|
October 15, 2013
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene
Fanny Morice-Picard, Eulalie Lasseaux, Dorothée Cailley, et al.
Human Genetics
|
November 19, 2010
High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients
Caroline Rooryck, Fanny Morice-Picard, Eulalie Lasseaux, et al.
European Journal of Human Genetics : EJHG
|
June 12, 2014
Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome
Eric Bieth, Sanaa Eddiry, Véronique Gaston, et al.
Blood
|
October 1, 2011
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome
Paquita Nurden, Najet Debili, Isabelle Coupry, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
European Journal of Medical Genetics
|
December 27, 2011
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype
Aurore Brun, Dorothée Cailley, Jérôme Toutain, et al.
European Journal of Medical Genetics
|
March 5, 2013
Prenatal diagnosis using array-CGH: a French experience
Caroline Rooryck, Jérôme Toutain, Dorothée Cailley, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2010
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum
Caroline Rooryck, Noui Souakri, Dorothée Cailley, et al.
European Journal of Medical Genetics
|
January 26, 2012
Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?
Sébastien Moutton, Caroline Rooryck, Jérôme Toutain, et al.
Pigment Cell & Melanoma Research
|
August 7, 2015
Albinism in a patient with mutations at both the OA1 and OCA3 loci
Fanny Morice-Picard, Eulalie Lasseaux, Claudio Plaisant, et al.
Cancer Genetics
|
July 19, 2011
Identification of a complex 17q rearrangement in a metanephric stromal tumor
Jérôme Toutain, Yen VuPhi, Martine Doco-Fenzy, et al.
Pigment Cell & Melanoma Research
|
October 15, 2013
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene
Fanny Morice-Picard, Eulalie Lasseaux, Dorothée Cailley, et al.
Human Genetics
|
November 19, 2010
High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients
Caroline Rooryck, Fanny Morice-Picard, Eulalie Lasseaux, et al.
European Journal of Human Genetics : EJHG
|
June 12, 2014
Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome
Eric Bieth, Sanaa Eddiry, Véronique Gaston, et al.
Blood
|
October 1, 2011
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome
Paquita Nurden, Najet Debili, Isabelle Coupry, et al.
Page
of 2