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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 14, 2016
CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia
A Kariminejad, L Schöls, R Schüle, et al.
Clinical Genetics
|
December 16, 2014
Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis
M S Zaki, L Selim, L Mansour, et al.
American Journal of Human Genetics
|
August 1, 2000
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes
J G Gleeson, S Minnerath, R I Kuzniecky, et al.
Journal of Neurology
|
February 1, 2000
Studies of the candidate genes in X-linked congenital cerebellar hypoplasia
S N Illarioshkin, K M Allen, J G Gleeson, et al.
Journal of Medical Genetics
|
December 20, 2003
Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes
E P Leeflang, S E Marsh, E Parrini, et al.
Nature Genetics
|
September 10, 1998
PAK3 mutation in nonsyndromic X-linked mental retardation
K M Allen, J G Gleeson, S Bagrodia, et al.
Clinical Genetics
|
August 6, 2014
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene
V Conti, M Pantaleo, C Barba, et al.
Neurology
|
August 3, 1999
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
W B Dobyns, C L Truwit, M E Ross, et al.
Neurology
|
February 13, 2008
The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families
M S Zaki, A Abdel-Aleem, G Abdel-Salam, et al.
Human Molecular Genetics
|
November 18, 1998
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
D T Pilz, N Matsumoto, S Minnerath, et al.
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of 4
Search research articles
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Showing results (21-30 of 36) with videos related to
Sort By:
Page
of 4
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 14, 2016
CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia
A Kariminejad, L Schöls, R Schüle, et al.
Clinical Genetics
|
December 16, 2014
Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis
M S Zaki, L Selim, L Mansour, et al.
American Journal of Human Genetics
|
August 1, 2000
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes
J G Gleeson, S Minnerath, R I Kuzniecky, et al.
Journal of Neurology
|
February 1, 2000
Studies of the candidate genes in X-linked congenital cerebellar hypoplasia
S N Illarioshkin, K M Allen, J G Gleeson, et al.
Journal of Medical Genetics
|
December 20, 2003
Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes
E P Leeflang, S E Marsh, E Parrini, et al.
Nature Genetics
|
September 10, 1998
PAK3 mutation in nonsyndromic X-linked mental retardation
K M Allen, J G Gleeson, S Bagrodia, et al.
Clinical Genetics
|
August 6, 2014
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene
V Conti, M Pantaleo, C Barba, et al.
Neurology
|
August 3, 1999
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
W B Dobyns, C L Truwit, M E Ross, et al.
Neurology
|
February 13, 2008
The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families
M S Zaki, A Abdel-Aleem, G Abdel-Salam, et al.
Human Molecular Genetics
|
November 18, 1998
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
D T Pilz, N Matsumoto, S Minnerath, et al.
Page
of 4