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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.
Nature Genetics
|
November 4, 2000
Mutant WD-repeat protein in triple-A syndrome
A Tullio-Pelet, R Salomon, S Hadj-Rabia, et al.
Nature Genetics
|
February 14, 1998
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
V Pingault, N Bondurand, K Kuhlbrodt, et al.
Annales De Dermatologie Et De Venereologie
|
June 8, 2001
[Neurofibromatosis 1: recommendations for management]
S Pinson, A Créange, S Barbarot, 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.
Human Mutation
|
April 3, 2007
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease
L de Pontual, A Pelet, M Clement-Ziza, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
February 28, 2002
[Neurofibromatosis 1: recommendations for management]
S Pinson, A Créange, S Barbarot, et al.
Journal of Medical Genetics
|
August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
M Willems, D Geneviève, G Borck, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2015
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome
A Bourchany, I Giurgea, J Thevenon, et al.
Journal Francais D'Ophtalmologie
|
May 16, 2002
[Recommendations for the treatment of neurofibromatosis type 1]
S Pinson, A Créange, S Barbarot, et al.
Page
of 23
Search research articles
Search
Showing results (201-210 of 223) with videos related to
Sort By:
Page
of 23
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.
Nature Genetics
|
November 4, 2000
Mutant WD-repeat protein in triple-A syndrome
A Tullio-Pelet, R Salomon, S Hadj-Rabia, et al.
Nature Genetics
|
February 14, 1998
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
V Pingault, N Bondurand, K Kuhlbrodt, et al.
Annales De Dermatologie Et De Venereologie
|
June 8, 2001
[Neurofibromatosis 1: recommendations for management]
S Pinson, A Créange, S Barbarot, 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.
Human Mutation
|
April 3, 2007
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease
L de Pontual, A Pelet, M Clement-Ziza, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
February 28, 2002
[Neurofibromatosis 1: recommendations for management]
S Pinson, A Créange, S Barbarot, et al.
Journal of Medical Genetics
|
August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
M Willems, D Geneviève, G Borck, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2015
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome
A Bourchany, I Giurgea, J Thevenon, et al.
Journal Francais D'Ophtalmologie
|
May 16, 2002
[Recommendations for the treatment of neurofibromatosis type 1]
S Pinson, A Créange, S Barbarot, et al.
Page
of 23