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David Genevieve

Showing results (11-20 of 51) with videos related to

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BMJ Case Reports|July 2, 2011
The C20orf133 gene is disrupted in a patient with Kabuki syndromeNicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
European Journal of Human Genetics : EJHG|March 3, 2005
Functional disomy of the Xq28 chromosome regionDamien Sanlaville, Marguerite Prieur, Marie-Christine de Blois, et al.
American Journal of Human Genetics|May 11, 2006
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genesCapucine Delnatte, Damien Sanlaville, Jean-Francois Mougenot, et al.
Neurogenetics|October 18, 2016
Recurrent KIF2A mutations are responsible for classic lissencephalyMara Cavallin, Emilia K Bijlsma, Adrienne El Morjani, et al.
Human Molecular Genetics|September 11, 2010
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defectsKarine Poirier, Yoann Saillour, Nadia Bahi-Buisson, et al.
European Journal of Human Genetics : EJHG|January 13, 2011
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresiaMarie Cognet, Agnés Nougayrede, Valérie Malan, et al.
European Journal of Human Genetics : EJHG|May 16, 2013
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disabilityFrederic Tran Mau-Them, Marjolaine Willems, Beate Albrecht, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutationKevin Yauy, Frederic Tran Mau-Them, Marjolaine Willems, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeDamien Sanlaville, David Genevieve, Céline Bernardin, et al.
European Journal of Human Genetics : EJHG|April 24, 2018
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experienceMélanie Rama, Claire Duflos, Isabelle Melki, et al.
Pageof 6

Showing results (11-20 of 51) with videos related to

Sort By:
Pageof 6
BMJ Case Reports|July 2, 2011
The C20orf133 gene is disrupted in a patient with Kabuki syndromeNicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
European Journal of Human Genetics : EJHG|March 3, 2005
Functional disomy of the Xq28 chromosome regionDamien Sanlaville, Marguerite Prieur, Marie-Christine de Blois, et al.
American Journal of Human Genetics|May 11, 2006
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genesCapucine Delnatte, Damien Sanlaville, Jean-Francois Mougenot, et al.
Neurogenetics|October 18, 2016
Recurrent KIF2A mutations are responsible for classic lissencephalyMara Cavallin, Emilia K Bijlsma, Adrienne El Morjani, et al.
Human Molecular Genetics|September 11, 2010
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defectsKarine Poirier, Yoann Saillour, Nadia Bahi-Buisson, et al.
European Journal of Human Genetics : EJHG|January 13, 2011
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresiaMarie Cognet, Agnés Nougayrede, Valérie Malan, et al.
European Journal of Human Genetics : EJHG|May 16, 2013
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disabilityFrederic Tran Mau-Them, Marjolaine Willems, Beate Albrecht, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutationKevin Yauy, Frederic Tran Mau-Them, Marjolaine Willems, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeDamien Sanlaville, David Genevieve, Céline Bernardin, et al.
European Journal of Human Genetics : EJHG|April 24, 2018
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experienceMélanie Rama, Claire Duflos, Isabelle Melki, et al.
Pageof 6