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European Journal of Human Genetics : EJHG
|
February 10, 2018
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome
Audrey Schalk, Géraldine Greff, Nathalie Drouot, et al.
American Journal of Medical Genetics. Part A
|
March 9, 2006
The ARX mutations: a frequent cause of X-linked mental retardation
Magdalena Nawara, Krzysztof Szczaluba, Karine Poirier, et al.
Journal of Neuroscience Research
|
January 19, 2012
Altered microtubule dynamics in Mecp2-deficient astrocytes
Juliette Nectoux, Cedrick Florian, Chloe Delepine, et al.
Network (Bristol, England)
|
September 12, 2002
A shape analysis framework for neuromorphometry
Luciano da Fontoura Costa, Edson Tadeu Monteiro Manoel, Fabien Faucereau, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2008
X-linked congenital ataxia: a new locus maps to Xq25-q27.1
Ginevra Zanni, Enrico Bertini, Cecelia Bellcross, et al.
BMC Medical Genetics
|
November 19, 2017
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, et al.
European Journal of Medical Genetics
|
February 15, 2011
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation
Imen Rejeb, Lamia Ben Jemaa, Leila Abaied, et al.
Acta Neuropathologica
|
April 9, 2010
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype
Magalie Lecourtois, Karine Poirier, Gaëlle Friocourt, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
November 26, 2010
Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy
Juliette Nectoux, Yann Fichou, Nicolas Cagnard, et al.
American Journal of Medical Genetics
|
February 22, 2002
Exclusion of the coding sequence of the doublecortin gene as a susceptibility locus in autistic disorder
Patrick Vourc'h, Elisabeth Petit, Jean Pierre Müh, et al.
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Search research articles
Search
Showing results (31-40 of 226) with videos related to
Sort By:
Page
of 23
European Journal of Human Genetics : EJHG
|
February 10, 2018
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome
Audrey Schalk, Géraldine Greff, Nathalie Drouot, et al.
American Journal of Medical Genetics. Part A
|
March 9, 2006
The ARX mutations: a frequent cause of X-linked mental retardation
Magdalena Nawara, Krzysztof Szczaluba, Karine Poirier, et al.
Journal of Neuroscience Research
|
January 19, 2012
Altered microtubule dynamics in Mecp2-deficient astrocytes
Juliette Nectoux, Cedrick Florian, Chloe Delepine, et al.
Network (Bristol, England)
|
September 12, 2002
A shape analysis framework for neuromorphometry
Luciano da Fontoura Costa, Edson Tadeu Monteiro Manoel, Fabien Faucereau, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2008
X-linked congenital ataxia: a new locus maps to Xq25-q27.1
Ginevra Zanni, Enrico Bertini, Cecelia Bellcross, et al.
BMC Medical Genetics
|
November 19, 2017
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, et al.
European Journal of Medical Genetics
|
February 15, 2011
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation
Imen Rejeb, Lamia Ben Jemaa, Leila Abaied, et al.
Acta Neuropathologica
|
April 9, 2010
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype
Magalie Lecourtois, Karine Poirier, Gaëlle Friocourt, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
November 26, 2010
Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy
Juliette Nectoux, Yann Fichou, Nicolas Cagnard, et al.
American Journal of Medical Genetics
|
February 22, 2002
Exclusion of the coding sequence of the doublecortin gene as a susceptibility locus in autistic disorder
Patrick Vourc'h, Elisabeth Petit, Jean Pierre Müh, et al.
Page
of 23