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Human Molecular Genetics
|
February 18, 2003
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
Dominique Weil, Aziz El-Amraoui, Saber Masmoudi, et al.
Pigment Cell & Melanoma Research
|
June 23, 2017
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS
Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, et al.
Human Mutation
|
September 14, 2006
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling
Valérie Pelletier, Marguerite Jambou, Nathalie Delphin, et al.
Annals of Surgery
|
September 26, 2018
Clinical Outcome After Rectal Replacement With Side-to-End, Colon-J-Pouch, or Straight Colorectal Anastomosis Following Total Mesorectal Excision: A Swiss Prospective, Randomized, Multicenter Trial (SAKK 40/04)
Walter R Marti, Gaudenz Curti, Heinz Wehrli, et al.
Human Mutation
|
April 4, 2007
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients
David Baux, Lise Larrieu, Catherine Blanchet, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2013
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations
Lucie Gueneau, Laurence Duplomb, Pierre Sarda, et al.
Annals of Surgical Oncology
|
June 23, 2019
Quality of Life After Total Mesorectal Excision and Rectal Replacement: Comparing Side-to-End, Colon J-Pouch and Straight Colorectal Reconstruction in a Randomized, Phase III Trial (SAKK 40/04)
Karin Ribi, Walter R Marti, Jürg Bernhard, et al.
Bulletin Et Memoires De L'Academie Royale De Medecine De Belgique
|
May 17, 2007
Gene therapeutic prospects in early onset of severe retinal dystrophy: restoration of vision in RPE65 Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium
F Rolling, Guylène Le Meur, Knut Stieger, et al.
Human Mutation
|
March 17, 2004
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis
Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
Annals of Neurology
|
March 25, 2008
Reversible optic neuropathy with OPA1 exon 5b mutation
Karen Cornille, Dan Milea, Patrizia Amati-Bonneau, et al.
Page
of 8
Search research articles
Search
Showing results (41-50 of 74) with videos related to
Sort By:
Page
of 8
Human Molecular Genetics
|
February 18, 2003
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
Dominique Weil, Aziz El-Amraoui, Saber Masmoudi, et al.
Pigment Cell & Melanoma Research
|
June 23, 2017
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS
Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, et al.
Human Mutation
|
September 14, 2006
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling
Valérie Pelletier, Marguerite Jambou, Nathalie Delphin, et al.
Annals of Surgery
|
September 26, 2018
Clinical Outcome After Rectal Replacement With Side-to-End, Colon-J-Pouch, or Straight Colorectal Anastomosis Following Total Mesorectal Excision: A Swiss Prospective, Randomized, Multicenter Trial (SAKK 40/04)
Walter R Marti, Gaudenz Curti, Heinz Wehrli, et al.
Human Mutation
|
April 4, 2007
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients
David Baux, Lise Larrieu, Catherine Blanchet, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2013
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations
Lucie Gueneau, Laurence Duplomb, Pierre Sarda, et al.
Annals of Surgical Oncology
|
June 23, 2019
Quality of Life After Total Mesorectal Excision and Rectal Replacement: Comparing Side-to-End, Colon J-Pouch and Straight Colorectal Reconstruction in a Randomized, Phase III Trial (SAKK 40/04)
Karin Ribi, Walter R Marti, Jürg Bernhard, et al.
Bulletin Et Memoires De L'Academie Royale De Medecine De Belgique
|
May 17, 2007
Gene therapeutic prospects in early onset of severe retinal dystrophy: restoration of vision in RPE65 Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium
F Rolling, Guylène Le Meur, Knut Stieger, et al.
Human Mutation
|
March 17, 2004
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis
Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
Annals of Neurology
|
March 25, 2008
Reversible optic neuropathy with OPA1 exon 5b mutation
Karen Cornille, Dan Milea, Patrizia Amati-Bonneau, et al.
Page
of 8