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Ronald Roepman

Showing results (91-100 of 122) with videos related to

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Investigative Ophthalmology & Visual Science|March 1, 2006
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosisSuzanne Yzer, Bart P Leroy, Elfride De Baere, et al.
American Journal of Human Genetics|September 3, 2016
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsKonstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 21, 2018
Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital BlindnessJi Yun Song, Puya Aravand, Sergei Nikonov, et al.
Human Molecular Genetics|December 12, 2017
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transportVerity L Hartill, Glenn van de Hoek, Mitali P Patel, et al.
American Journal of Human Genetics|June 20, 2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in ZebrafishJulie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhoodMargot R F Reijnders, Annette Seibt, Melanie Brugger, et al.
Nature Communications|June 6, 2015
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transportMiriam Schmidts, Yuqing Hou, Claudio R Cortés, et al.
American Journal of Human Genetics|October 25, 2011
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19Cecilie Bredrup, Sophie Saunier, Machteld M Oud, et al.
Plos Genetics|August 28, 2018
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertilityAsaf Ta-Shma, Rim Hjeij, Zeev Perles, et al.
Pageof 13

Showing results (91-100 of 122) with videos related to

Sort By:
Pageof 13
Investigative Ophthalmology & Visual Science|March 1, 2006
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosisSuzanne Yzer, Bart P Leroy, Elfride De Baere, et al.
American Journal of Human Genetics|September 3, 2016
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsKonstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 21, 2018
Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital BlindnessJi Yun Song, Puya Aravand, Sergei Nikonov, et al.
Human Molecular Genetics|December 12, 2017
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transportVerity L Hartill, Glenn van de Hoek, Mitali P Patel, et al.
American Journal of Human Genetics|June 20, 2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in ZebrafishJulie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhoodMargot R F Reijnders, Annette Seibt, Melanie Brugger, et al.
Nature Communications|June 6, 2015
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transportMiriam Schmidts, Yuqing Hou, Claudio R Cortés, et al.
American Journal of Human Genetics|October 25, 2011
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19Cecilie Bredrup, Sophie Saunier, Machteld M Oud, et al.
Plos Genetics|August 28, 2018
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertilityAsaf Ta-Shma, Rim Hjeij, Zeev Perles, et al.
Pageof 13