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Archives of Disease in Childhood
|
January 24, 2006
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays
L Pasquier, V Laugel, L Lazaro, et al.
Journal of Medical Genetics
|
April 6, 2001
Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation
F Giraudeau, L Taine, V Biancalana, et al.
Lancet (London, England)
|
October 7, 2000
Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis
V Scotet, M de Braekeleer, M Roussey, et al.
Journal of Medical Genetics
|
July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
N Le Meur, M Holder-Espinasse, S Jaillard, et al.
Journal of the Neurological Sciences
|
October 22, 2019
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants
J Lerat, C Magdelaine, A Lunati, et al.
Journal of Medical Genetics
|
January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
P de Lonlay, N Seta, S Barrot, et al.
Clinical Genetics
|
September 10, 2004
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity
H Blons, D Feldmann, V Duval, et al.
Annales De Genetique
|
January 1, 1997
Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children)
M Mathieu, C Piussan, F Thepot, et al.
Human Mutation
|
November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
V Laugel, C Dalloz, M Durand, et al.
Clinical Genetics
|
March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P Callier, B Aral, N Hanna, et al.
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Search research articles
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Showing results (51-60 of 60) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 60 results.
Archives of Disease in Childhood
|
January 24, 2006
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays
L Pasquier, V Laugel, L Lazaro, et al.
Journal of Medical Genetics
|
April 6, 2001
Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation
F Giraudeau, L Taine, V Biancalana, et al.
Lancet (London, England)
|
October 7, 2000
Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis
V Scotet, M de Braekeleer, M Roussey, et al.
Journal of Medical Genetics
|
July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
N Le Meur, M Holder-Espinasse, S Jaillard, et al.
Journal of the Neurological Sciences
|
October 22, 2019
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants
J Lerat, C Magdelaine, A Lunati, et al.
Journal of Medical Genetics
|
January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
P de Lonlay, N Seta, S Barrot, et al.
Clinical Genetics
|
September 10, 2004
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity
H Blons, D Feldmann, V Duval, et al.
Annales De Genetique
|
January 1, 1997
Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children)
M Mathieu, C Piussan, F Thepot, et al.
Human Mutation
|
November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
V Laugel, C Dalloz, M Durand, et al.
Clinical Genetics
|
March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P Callier, B Aral, N Hanna, et al.
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of 6