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Journal of Medical Genetics
|
September 10, 2003
Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations
J J Luciani, P de Mas, D Depetris, 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.
Journal of Medical Genetics
|
May 1, 2007
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions
J Andrieux, C Villenet, S Quief, 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
|
July 18, 2002
French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature
I Luquet, F Mugneret, P D Athis, et al.
Translational Psychiatry
|
July 8, 2015
Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets
F Degenhardt, L Priebe, S Meier, et al.
Journal of Medical Genetics
|
June 5, 2010
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
C Bonnet, J Andrieux, M Béri-Dexheimer, et al.
Clinical Genetics
|
March 19, 2010
Delineation of 15q13.3 microdeletions
A Masurel-Paulet, J Andrieux, P Callier, et al.
Journal of Medical Genetics
|
December 20, 2011
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
Anna-Maja Molin, J Andrieux, D A Koolen, et al.
Clinical Genetics
|
March 26, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases
S Baer, A Afenjar, T Smol, et al.
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of 5
Search research articles
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Showing results (31-40 of 41) with videos related to
Sort By:
Page
of 5
Journal of Medical Genetics
|
September 10, 2003
Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations
J J Luciani, P de Mas, D Depetris, 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.
Journal of Medical Genetics
|
May 1, 2007
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions
J Andrieux, C Villenet, S Quief, 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
|
July 18, 2002
French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature
I Luquet, F Mugneret, P D Athis, et al.
Translational Psychiatry
|
July 8, 2015
Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets
F Degenhardt, L Priebe, S Meier, et al.
Journal of Medical Genetics
|
June 5, 2010
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
C Bonnet, J Andrieux, M Béri-Dexheimer, et al.
Clinical Genetics
|
March 19, 2010
Delineation of 15q13.3 microdeletions
A Masurel-Paulet, J Andrieux, P Callier, et al.
Journal of Medical Genetics
|
December 20, 2011
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
Anna-Maja Molin, J Andrieux, D A Koolen, et al.
Clinical Genetics
|
March 26, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases
S Baer, A Afenjar, T Smol, et al.
Page
of 5