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American Journal of Human Genetics
|
June 15, 2007
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
Lekbir Baala, Sophie Audollent, Jéléna Martinovic, et al.
Human Mutation
|
November 3, 2011
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum
Sandra Whalen, Delphine Héron, Thierry Gaillon, et al.
European Journal of Human Genetics : EJHG
|
February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
Céline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.
American Journal of Medical Genetics. Part A
|
November 27, 2014
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
Mathilde Nizon, Joris Andrieux, Caroline Rooryck, et al.
The Journal of Pediatrics
|
March 29, 2013
Clinical and molecular spectrum of renal malformations in Kabuki syndrome
Jean-Benoît Courcet, Laurence Faivre, Caroline Michot, et al.
American Journal of Human Genetics
|
June 21, 2011
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
Carine Le Goff, Clémentine Mahaut, Lauren W Wang, et al.
European Journal of Medical Genetics
|
August 13, 2013
Finger creases lend a hand in Kabuki syndrome
Caroline Michot, Carole Corsini, Damien Sanlaville, et al.
Nature Genetics
|
January 11, 2011
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
Tracy A Briggs, Gillian I Rice, Sarah Daly, et al.
The Journal of Experimental Medicine
|
July 2, 2008
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells
Ludovic de Beaucoudrey, Anne Puel, Orchidée Filipe-Santos, et al.
European Journal of Human Genetics : EJHG
|
April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutations
Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.
Page
of 12
Search research articles
Search
Showing results (101-110 of 113) with videos related to
Sort By:
Page
of 12
American Journal of Human Genetics
|
June 15, 2007
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
Lekbir Baala, Sophie Audollent, Jéléna Martinovic, et al.
Human Mutation
|
November 3, 2011
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum
Sandra Whalen, Delphine Héron, Thierry Gaillon, et al.
European Journal of Human Genetics : EJHG
|
February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
Céline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.
American Journal of Medical Genetics. Part A
|
November 27, 2014
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
Mathilde Nizon, Joris Andrieux, Caroline Rooryck, et al.
The Journal of Pediatrics
|
March 29, 2013
Clinical and molecular spectrum of renal malformations in Kabuki syndrome
Jean-Benoît Courcet, Laurence Faivre, Caroline Michot, et al.
American Journal of Human Genetics
|
June 21, 2011
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
Carine Le Goff, Clémentine Mahaut, Lauren W Wang, et al.
European Journal of Medical Genetics
|
August 13, 2013
Finger creases lend a hand in Kabuki syndrome
Caroline Michot, Carole Corsini, Damien Sanlaville, et al.
Nature Genetics
|
January 11, 2011
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
Tracy A Briggs, Gillian I Rice, Sarah Daly, et al.
The Journal of Experimental Medicine
|
July 2, 2008
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells
Ludovic de Beaucoudrey, Anne Puel, Orchidée Filipe-Santos, et al.
European Journal of Human Genetics : EJHG
|
April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutations
Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.
Page
of 12