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Journal of Medical Genetics
|
June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
M Rio, L Clech, J Amiel, et al.
Molecular Genetics and Metabolism
|
August 15, 2017
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients
E Lebigot, P Gaignard, I Dorboz, 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.
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.
Orphanet Journal of Rare Diseases
|
March 4, 2022
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients
M Mouillé, M Rio, S Breton, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
January 17, 2012
[Diagnostic investigations for an unexplained developmental disability]
A Verloes, D Héron, T Billette de Villemeur, et al.
Neurology
|
July 7, 2010
Mitochondrial ND5 mutations mimicking brainstem tectal glioma
M Rio, A S Lebre, P de Lonlay, et al.
European Journal of Human Genetics : EJHG
|
May 30, 2001
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
L Colleaux, M Rio, S Heuertz, et al.
Nanoscale
|
June 4, 2013
Targeted delivery of photosensitizers: efficacy and selectivity issues revealed by multifunctional ORMOSIL nanovectors in cellular systems
Francesco Selvestrel, Francesca Moret, Daniela Segat, et al.
Clinical Genetics
|
February 4, 2017
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
S Nambot, D Gavrilov, J Thevenon, et al.
Page
of 11
Search research articles
Search
Showing results (91-100 of 107) with videos related to
Sort By:
Page
of 11
Journal of Medical Genetics
|
June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
M Rio, L Clech, J Amiel, et al.
Molecular Genetics and Metabolism
|
August 15, 2017
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients
E Lebigot, P Gaignard, I Dorboz, 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.
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.
Orphanet Journal of Rare Diseases
|
March 4, 2022
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients
M Mouillé, M Rio, S Breton, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
January 17, 2012
[Diagnostic investigations for an unexplained developmental disability]
A Verloes, D Héron, T Billette de Villemeur, et al.
Neurology
|
July 7, 2010
Mitochondrial ND5 mutations mimicking brainstem tectal glioma
M Rio, A S Lebre, P de Lonlay, et al.
European Journal of Human Genetics : EJHG
|
May 30, 2001
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
L Colleaux, M Rio, S Heuertz, et al.
Nanoscale
|
June 4, 2013
Targeted delivery of photosensitizers: efficacy and selectivity issues revealed by multifunctional ORMOSIL nanovectors in cellular systems
Francesco Selvestrel, Francesca Moret, Daniela Segat, et al.
Clinical Genetics
|
February 4, 2017
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
S Nambot, D Gavrilov, J Thevenon, et al.
Page
of 11