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Human Genetics
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January 8, 2021
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth
Médéric Jeanne, Marie-Laure Vuillaume, Dévina C Ung, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America
|
March 27, 2012
Relationship of in vitro susceptibility to moxifloxacin and in vivo clinical outcome in bacterial keratitis
Prajna Lalitha, Muthiah Srinivasan, P Manikandan, et al.
RNA (New York, N.Y.)
|
June 9, 2019
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients
Audric Cologne, Clara Benoit-Pilven, Alicia Besson, et al.
American Journal of Medical Genetics. Part A
|
May 20, 2004
Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome
Alain Verloes, Pierre Bitoun, Anne Heuskin, et al.
Revue Neurologique
|
January 29, 2005
[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]
R Ben Yaou, H-M Bécane, L Demay, et al.
American Journal of Human Genetics
|
March 31, 2015
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy
Sophie Scheidecker, Christelle Etard, Laurence Haren, et al.
American Journal of Human Genetics
|
November 14, 2007
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
Nadege Bondurand, Florence Dastot-Le Moal, Laure Stanchina, et al.
Neurology
|
April 5, 2015
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia
Marie Coutelier, Lydie Burglen, Emeline Mundwiller, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 9, 2021
Critical role of Aquaporin-1 and telocytes in infantile hemangioma response to propranolol beta blockade
François Moisan, Sandra Oucherif, Priscilla Kaulanjan-Checkmodine, et al.
Journal of Medical Genetics
|
July 26, 2023
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders
Kevin Riquin, Bertrand Isidor, Sandra Mercier, et al.
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of 89
Search research articles
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Showing results (721-730 of 885) with videos related to
Sort By:
Page
of 89
Human Genetics
|
January 8, 2021
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth
Médéric Jeanne, Marie-Laure Vuillaume, Dévina C Ung, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America
|
March 27, 2012
Relationship of in vitro susceptibility to moxifloxacin and in vivo clinical outcome in bacterial keratitis
Prajna Lalitha, Muthiah Srinivasan, P Manikandan, et al.
RNA (New York, N.Y.)
|
June 9, 2019
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients
Audric Cologne, Clara Benoit-Pilven, Alicia Besson, et al.
American Journal of Medical Genetics. Part A
|
May 20, 2004
Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome
Alain Verloes, Pierre Bitoun, Anne Heuskin, et al.
Revue Neurologique
|
January 29, 2005
[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]
R Ben Yaou, H-M Bécane, L Demay, et al.
American Journal of Human Genetics
|
March 31, 2015
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy
Sophie Scheidecker, Christelle Etard, Laurence Haren, et al.
American Journal of Human Genetics
|
November 14, 2007
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
Nadege Bondurand, Florence Dastot-Le Moal, Laure Stanchina, et al.
Neurology
|
April 5, 2015
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia
Marie Coutelier, Lydie Burglen, Emeline Mundwiller, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 9, 2021
Critical role of Aquaporin-1 and telocytes in infantile hemangioma response to propranolol beta blockade
François Moisan, Sandra Oucherif, Priscilla Kaulanjan-Checkmodine, et al.
Journal of Medical Genetics
|
July 26, 2023
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders
Kevin Riquin, Bertrand Isidor, Sandra Mercier, et al.
Page
of 89