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Clinical Genetics
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June 4, 1998
Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation
V des Portes, A Carrié, P Billuart, et al.
Human Molecular Genetics
|
May 18, 2000
MECP2 mutations account for most cases of typical forms of Rett syndrome
T Bienvenu, A Carrié, N de Roux, et al.
Human Molecular Genetics
|
July 1, 1996
Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation
P Billuart, M C Vinet, V des Portes, et al.
American Journal of Medical Genetics
|
July 12, 1996
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter
V des Portes, L Bachner, T Brüls, et al.
Neuron
|
July 10, 1999
Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons
F Francis, A Koulakoff, D Boucher, et al.
Cell
|
March 7, 1998
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
V des Portes, J M Pinard, P Billuart, et al.
Genomics
|
April 11, 2000
Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia
N McDonell, J Ramser, F Francis, et al.
Human Molecular Genetics
|
July 21, 1998
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor
T Bienvenu, V des Portes, A Saint Martin, et al.
Nature
|
May 15, 1998
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
P Billuart, T Bienvenu, N Ronce, et al.
Journal of Medical Genetics
|
March 1, 1997
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22
V des Portes, J M Pinard, D Smadja, et al.
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of 3
Search research articles
Search
Showing results (11-20 of 22) with videos related to
Sort By:
Page
of 3
Clinical Genetics
|
June 4, 1998
Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation
V des Portes, A Carrié, P Billuart, et al.
Human Molecular Genetics
|
May 18, 2000
MECP2 mutations account for most cases of typical forms of Rett syndrome
T Bienvenu, A Carrié, N de Roux, et al.
Human Molecular Genetics
|
July 1, 1996
Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation
P Billuart, M C Vinet, V des Portes, et al.
American Journal of Medical Genetics
|
July 12, 1996
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter
V des Portes, L Bachner, T Brüls, et al.
Neuron
|
July 10, 1999
Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons
F Francis, A Koulakoff, D Boucher, et al.
Cell
|
March 7, 1998
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
V des Portes, J M Pinard, P Billuart, et al.
Genomics
|
April 11, 2000
Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia
N McDonell, J Ramser, F Francis, et al.
Human Molecular Genetics
|
July 21, 1998
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor
T Bienvenu, V des Portes, A Saint Martin, et al.
Nature
|
May 15, 1998
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
P Billuart, T Bienvenu, N Ronce, et al.
Journal of Medical Genetics
|
March 1, 1997
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22
V des Portes, J M Pinard, D Smadja, et al.
Page
of 3