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The Journal of Pediatrics
|
February 5, 2000
Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency
P de Lonlay-Debeney, J C von Kleist-Retzow, L Hertz-Pannier, et al.
American Journal of Human Genetics
|
October 12, 2001
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures
J Amiel, Y Espinosa-Parrilla, J Steffann, et al.
Journal of Neuroradiology = Journal De Neuroradiologie
|
April 10, 2010
Posterior fossa imaging in 158 children with ataxia
N Boddaert, I Desguerre, N Bahi-Buisson, et al.
Journal of Medical Genetics
|
July 15, 2006
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
M-L Jacquemont, D Sanlaville, R Redon, et al.
Journal of Medical Genetics
|
April 16, 2002
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
M Rio, F Molinari, S Heuertz, et al.
Nature Genetics
|
November 4, 2000
Mutant WD-repeat protein in triple-A syndrome
A Tullio-Pelet, R Salomon, S Hadj-Rabia, et al.
Human Genetics
|
November 9, 2000
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
S Gerber, J M Rozet, S I Takezawa, et al.
Clinical Genetics
|
July 16, 2004
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation
G Borck, M Rio, D Sanlaville, et al.
American Journal of Human Genetics
|
April 14, 2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain
R L Touraine, T Attié-Bitach, E Manceau, et al.
Molecular Genetics and Metabolism
|
May 10, 2011
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency
A Boutron, C Acquaviva, C Vianey-Saban, et al.
Page
of 43
Search research articles
Search
Showing results (401-410 of 426) with videos related to
Sort By:
Page
of 43
The Journal of Pediatrics
|
February 5, 2000
Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency
P de Lonlay-Debeney, J C von Kleist-Retzow, L Hertz-Pannier, et al.
American Journal of Human Genetics
|
October 12, 2001
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures
J Amiel, Y Espinosa-Parrilla, J Steffann, et al.
Journal of Neuroradiology = Journal De Neuroradiologie
|
April 10, 2010
Posterior fossa imaging in 158 children with ataxia
N Boddaert, I Desguerre, N Bahi-Buisson, et al.
Journal of Medical Genetics
|
July 15, 2006
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
M-L Jacquemont, D Sanlaville, R Redon, et al.
Journal of Medical Genetics
|
April 16, 2002
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
M Rio, F Molinari, S Heuertz, et al.
Nature Genetics
|
November 4, 2000
Mutant WD-repeat protein in triple-A syndrome
A Tullio-Pelet, R Salomon, S Hadj-Rabia, et al.
Human Genetics
|
November 9, 2000
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
S Gerber, J M Rozet, S I Takezawa, et al.
Clinical Genetics
|
July 16, 2004
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation
G Borck, M Rio, D Sanlaville, et al.
American Journal of Human Genetics
|
April 14, 2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain
R L Touraine, T Attié-Bitach, E Manceau, et al.
Molecular Genetics and Metabolism
|
May 10, 2011
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency
A Boutron, C Acquaviva, C Vianey-Saban, et al.
Page
of 43