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Journal of Medical Genetics
|
June 3, 2004
Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations
M Holder-Espinasse, F Escande, E Mayrargue, et al.
Pathologie-Biologie
|
February 2, 2010
[Genetic testing in the context of the revision of the French law on bioethics]
D Bonneau, S Marlin, D Sanlaville, et al.
American Journal of Human Genetics
|
March 21, 2000
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene
M Melkoniemi, H G Brunner, S Manouvrier, et al.
Clinical Genetics
|
November 10, 2017
Small patella syndrome: New clinical and molecular insights into a consistent phenotype
C Vanlerberghe, A-S Jourdain, A Dieux, et al.
Clinical Genetics
|
December 30, 2016
SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management
C Colson, E Aubry, M Cartigny, et al.
Clinical Genetics
|
September 6, 2013
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause
F Petit, F Escande, A S Jourdain, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
April 6, 2005
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2]
C Morisot, G Millat, A Coeslier, et al.
Human Mutation
|
September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis
P Saugier-Veber, C Martin, N Le Meur, 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
|
June 25, 2013
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families
F Petit, A-S Jourdain, J Andrieux, et al.
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of 8
Search research articles
Search
Showing results (61-70 of 79) with videos related to
Sort By:
Page
of 8
Journal of Medical Genetics
|
June 3, 2004
Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations
M Holder-Espinasse, F Escande, E Mayrargue, et al.
Pathologie-Biologie
|
February 2, 2010
[Genetic testing in the context of the revision of the French law on bioethics]
D Bonneau, S Marlin, D Sanlaville, et al.
American Journal of Human Genetics
|
March 21, 2000
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene
M Melkoniemi, H G Brunner, S Manouvrier, et al.
Clinical Genetics
|
November 10, 2017
Small patella syndrome: New clinical and molecular insights into a consistent phenotype
C Vanlerberghe, A-S Jourdain, A Dieux, et al.
Clinical Genetics
|
December 30, 2016
SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management
C Colson, E Aubry, M Cartigny, et al.
Clinical Genetics
|
September 6, 2013
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause
F Petit, F Escande, A S Jourdain, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
April 6, 2005
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2]
C Morisot, G Millat, A Coeslier, et al.
Human Mutation
|
September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis
P Saugier-Veber, C Martin, N Le Meur, 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
|
June 25, 2013
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families
F Petit, A-S Jourdain, J Andrieux, et al.
Page
of 8