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Marie-Ange Delrue

Showing results (21-30 of 55) with videos related to

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Archives of Disease in Childhood|October 18, 2014
Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndromeFanny Laffargue, Sylvie Bourthoumieu, Brigitte Llanas, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiencyFrédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Phenotype and natural history in Marshall-Smith syndromeAdam C Shaw, Inge D C van Balkom, Mislen Bauer, et al.
Human Mutation|June 14, 2014
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndromeDenny Schanze, Dorothée Neubauer, Valerie Cormier-Daire, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndromePhi Yen Vu, Jérôme Toutain, David Cappellen, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genesMartine Doco-Fenzy, Camille Leroy, Anouck Schneider, et al.
Human Mutation|April 28, 2016
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor ImpairmentMyriam Srour, Véronique Caron, Toni Pearson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesisSarah Boissel, Catherine Fallet-Bianco, David Chitayat, et al.
Circulation|December 10, 2009
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disordersDavid Attias, Chantal Stheneur, Carine Roy, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assaysMarine Legendre, Montserrat Rodriguez-Ballesteros, Massimiliano Rossi, et al.
Pageof 6

Showing results (21-30 of 55) with videos related to

Sort By:
Pageof 6
Archives of Disease in Childhood|October 18, 2014
Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndromeFanny Laffargue, Sylvie Bourthoumieu, Brigitte Llanas, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiencyFrédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Phenotype and natural history in Marshall-Smith syndromeAdam C Shaw, Inge D C van Balkom, Mislen Bauer, et al.
Human Mutation|June 14, 2014
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndromeDenny Schanze, Dorothée Neubauer, Valerie Cormier-Daire, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndromePhi Yen Vu, Jérôme Toutain, David Cappellen, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genesMartine Doco-Fenzy, Camille Leroy, Anouck Schneider, et al.
Human Mutation|April 28, 2016
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor ImpairmentMyriam Srour, Véronique Caron, Toni Pearson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesisSarah Boissel, Catherine Fallet-Bianco, David Chitayat, et al.
Circulation|December 10, 2009
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disordersDavid Attias, Chantal Stheneur, Carine Roy, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assaysMarine Legendre, Montserrat Rodriguez-Ballesteros, Massimiliano Rossi, et al.
Pageof 6