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Marjan Huizing

Showing results (121-130 of 130) with videos related to

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Journal of Medical Genetics|October 3, 2023
Spectrum of <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literatureMarie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, et al.
Gastroenterology|October 9, 2012
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney diseaseMeral Gunay-Aygun, Esperanza Font-Montgomery, Linda Lukose, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2021
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 studyNuria Carrillo, May C Malicdan, Petcharat Leoyklang, et al.
Nature Genetics|July 19, 2011
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granulesMeral Gunay-Aygun, Tzipora C Falik-Zaccai, Thierry Vilboux, et al.
Journal of Medical Genetics|April 21, 2016
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defectsThierry Vilboux, May Christine V Malicdan, Yun Min Chang, et al.
Nature Genetics|August 16, 2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan, Jennifer J Johnston, Irini Manoli, et al.
Molecular Genetics and Metabolism|May 7, 2015
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchorsChristina Lam, Gretchen A Golas, Mariska Davids, et al.
The New England Journal of Medicine|June 7, 2013
A congenital neutrophil defect syndrome associated with mutations in VPS45Thierry Vilboux, Atar Lev, May Christine V Malicdan, et al.
Blood|August 17, 2010
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3pMeral Gunay-Aygun, Yifat Zivony-Elboum, Fatma Gumruk, et al.
The New England Journal of Medicine|June 5, 2009
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonistIvona Aksentijevich, Seth L Masters, Polly J Ferguson, et al.
Pageof 13

Showing results (121-130 of 130) with videos related to

Sort By:
Pageof 13
You have reached the last page of results.This site can display upto 130 results.
Journal of Medical Genetics|October 3, 2023
Spectrum of <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literatureMarie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, et al.
Gastroenterology|October 9, 2012
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney diseaseMeral Gunay-Aygun, Esperanza Font-Montgomery, Linda Lukose, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2021
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 studyNuria Carrillo, May C Malicdan, Petcharat Leoyklang, et al.
Nature Genetics|July 19, 2011
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granulesMeral Gunay-Aygun, Tzipora C Falik-Zaccai, Thierry Vilboux, et al.
Journal of Medical Genetics|April 21, 2016
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defectsThierry Vilboux, May Christine V Malicdan, Yun Min Chang, et al.
Nature Genetics|August 16, 2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan, Jennifer J Johnston, Irini Manoli, et al.
Molecular Genetics and Metabolism|May 7, 2015
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchorsChristina Lam, Gretchen A Golas, Mariska Davids, et al.
The New England Journal of Medicine|June 7, 2013
A congenital neutrophil defect syndrome associated with mutations in VPS45Thierry Vilboux, Atar Lev, May Christine V Malicdan, et al.
Blood|August 17, 2010
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3pMeral Gunay-Aygun, Yifat Zivony-Elboum, Fatma Gumruk, et al.
The New England Journal of Medicine|June 5, 2009
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonistIvona Aksentijevich, Seth L Masters, Polly J Ferguson, et al.
Pageof 13