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Lisa G Shaffer

Showing results (191-200 of 215) with videos related to

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The New England Journal of Medicine|December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosisRonald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 28, 2013
Mouse model implicates GNB3 duplication in a childhood obesity syndromeIan S Goldlust, Karen E Hermetz, Lisa M Catalano, et al.
Neurogenetics|January 6, 2012
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new casesJill A Rosenfeld, Dina Amrom, Eva Andermann, et al.
American Journal of Human Genetics|March 9, 2010
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalitiesBlake C Ballif, Aaron Theisen, Jill A Rosenfeld, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderSureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, et al.
Human Mutation|July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delaysAndrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.
Archives of General Psychiatry|October 10, 2012
Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesityCarl Ernst, Christian R Marshall, Yiping Shen, et al.
Human Genetics|July 30, 2011
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, et al.
American Journal of Human Genetics|December 11, 2012
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilitiesMichael E Talkowski, Gilles Maussion, Liam Crapper, et al.
American Journal of Medical Genetics. Part A|October 21, 2016
Implication of LRRC4C and DPP6 in neurodevelopmental disordersGilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, et al.
Pageof 22

Showing results (191-200 of 215) with videos related to

Sort By:
Pageof 22
The New England Journal of Medicine|December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosisRonald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 28, 2013
Mouse model implicates GNB3 duplication in a childhood obesity syndromeIan S Goldlust, Karen E Hermetz, Lisa M Catalano, et al.
Neurogenetics|January 6, 2012
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new casesJill A Rosenfeld, Dina Amrom, Eva Andermann, et al.
American Journal of Human Genetics|March 9, 2010
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalitiesBlake C Ballif, Aaron Theisen, Jill A Rosenfeld, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderSureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, et al.
Human Mutation|July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delaysAndrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.
Archives of General Psychiatry|October 10, 2012
Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesityCarl Ernst, Christian R Marshall, Yiping Shen, et al.
Human Genetics|July 30, 2011
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, et al.
American Journal of Human Genetics|December 11, 2012
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilitiesMichael E Talkowski, Gilles Maussion, Liam Crapper, et al.
American Journal of Medical Genetics. Part A|October 21, 2016
Implication of LRRC4C and DPP6 in neurodevelopmental disordersGilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, et al.
Pageof 22