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Epilepsy Research
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September 8, 2009
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy
Rima Nabbout, Christel Depienne, Mathilde Chipaux, et al.
European Journal of Human Genetics : EJHG
|
September 6, 2012
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
Karine Poirier, Yoann Saillour, Franck Fourniol, et al.
Neurogenetics
|
July 27, 2012
Mosaic DCX deletion causes subcortical band heterotopia in males
Chloé Quélin, Yoann Saillour, Isabelle Souville, et al.
European Journal of Medical Genetics
|
September 27, 2023
MAST1-related mega-corpus-callosum syndrome with central hypogonadism
Natacha Sloboda, Emeline Renard, Laetitia Lambert, et al.
American Journal of Human Genetics
|
November 13, 2002
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency
Frédéric Laumonnier, Nathalie Ronce, Ben C J Hamel, et al.
The HUGO Journal
|
June 11, 2010
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
Hao Hu, Klaus Wrogemann, Vera Kalscheuer, et al.
European Journal of Medical Genetics
|
July 19, 2015
Rare ACTG1 variants in fetal microlissencephaly
Karine Poirier, Jelena Martinovic, Annie Laquerrière, et al.
European Journal of Human Genetics : EJHG
|
September 14, 2006
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11
Lars Riff Jensen, Steffen Lenzner, Bettina Moser, et al.
American Journal of Medical Genetics
|
January 25, 2002
In-frame deletion in MECP2 causes mild nonspecific mental retardation
Helger G Yntema, Astrid R Oudakker, Tjitske Kleefstra, et al.
Human Genetics
|
March 3, 2007
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
Guy Froyen, Marijke Bauters, Jackie Boyle, et al.
Page
of 23
Search research articles
Search
Showing results (101-110 of 226) with videos related to
Sort By:
Page
of 23
Epilepsy Research
|
September 8, 2009
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy
Rima Nabbout, Christel Depienne, Mathilde Chipaux, et al.
European Journal of Human Genetics : EJHG
|
September 6, 2012
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
Karine Poirier, Yoann Saillour, Franck Fourniol, et al.
Neurogenetics
|
July 27, 2012
Mosaic DCX deletion causes subcortical band heterotopia in males
Chloé Quélin, Yoann Saillour, Isabelle Souville, et al.
European Journal of Medical Genetics
|
September 27, 2023
MAST1-related mega-corpus-callosum syndrome with central hypogonadism
Natacha Sloboda, Emeline Renard, Laetitia Lambert, et al.
American Journal of Human Genetics
|
November 13, 2002
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency
Frédéric Laumonnier, Nathalie Ronce, Ben C J Hamel, et al.
The HUGO Journal
|
June 11, 2010
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
Hao Hu, Klaus Wrogemann, Vera Kalscheuer, et al.
European Journal of Medical Genetics
|
July 19, 2015
Rare ACTG1 variants in fetal microlissencephaly
Karine Poirier, Jelena Martinovic, Annie Laquerrière, et al.
European Journal of Human Genetics : EJHG
|
September 14, 2006
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11
Lars Riff Jensen, Steffen Lenzner, Bettina Moser, et al.
American Journal of Medical Genetics
|
January 25, 2002
In-frame deletion in MECP2 causes mild nonspecific mental retardation
Helger G Yntema, Astrid R Oudakker, Tjitske Kleefstra, et al.
Human Genetics
|
March 3, 2007
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
Guy Froyen, Marijke Bauters, Jackie Boyle, et al.
Page
of 23