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Marjan Huizing

Showing results (71-80 of 130) with videos related to

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Biomedical Chromatography : BMC|November 7, 2019
Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validationMeng Fang, Xin Xu, Michael Zhang, et al.
Development (Cambridge, England)|July 15, 2010
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3Wuhong Pei, Lisa E Kratz, Isa Bernardini, et al.
Human Mutation|October 17, 2006
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristicsNira Schreyer-Shafir, Marjan Huizing, Yair Anikster, et al.
Molecular Genetics and Metabolism|July 2, 2010
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2Lisa M Vincent, Fred Gilbert, Jennifer I DiPace, et al.
American Journal of Medical Genetics. Part A|April 1, 2009
Hermansky-Pudlak syndrome in two African-American brothersMelissa A Merideth, Lisa M Vincent, Susan E Sparks, et al.
Human Mutation|May 7, 2014
Mutation update for GNE gene variants associated with GNE myopathyFrank V Celeste, Thierry Vilboux, Carla Ciccone, et al.
Stem Cell Research|October 26, 2024
Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)Marya S Sabir, Petcharat Leoyklang, Mary E Hackbarth, et al.
Kidney International Reports|February 3, 2026
Phase 1 Study of Oral N-Acetylmannosamine in Primary PodocytopathiesMarjan Huizing, Anirban Ganguli, Jonathan Bolaños, et al.
The Journal of Investigative Dermatology|June 17, 2011
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropeniaAndrew R Cullinane, Thierry Vilboux, Kevin O'Brien, et al.
Blood|October 26, 2006
The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granulesSreenivasulu Chintala, Jian Tan, Rashi Gautam, et al.
Pageof 13

Showing results (71-80 of 130) with videos related to

Sort By:
Pageof 13
Biomedical Chromatography : BMC|November 7, 2019
Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validationMeng Fang, Xin Xu, Michael Zhang, et al.
Development (Cambridge, England)|July 15, 2010
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3Wuhong Pei, Lisa E Kratz, Isa Bernardini, et al.
Human Mutation|October 17, 2006
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristicsNira Schreyer-Shafir, Marjan Huizing, Yair Anikster, et al.
Molecular Genetics and Metabolism|July 2, 2010
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2Lisa M Vincent, Fred Gilbert, Jennifer I DiPace, et al.
American Journal of Medical Genetics. Part A|April 1, 2009
Hermansky-Pudlak syndrome in two African-American brothersMelissa A Merideth, Lisa M Vincent, Susan E Sparks, et al.
Human Mutation|May 7, 2014
Mutation update for GNE gene variants associated with GNE myopathyFrank V Celeste, Thierry Vilboux, Carla Ciccone, et al.
Stem Cell Research|October 26, 2024
Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)Marya S Sabir, Petcharat Leoyklang, Mary E Hackbarth, et al.
Kidney International Reports|February 3, 2026
Phase 1 Study of Oral N-Acetylmannosamine in Primary PodocytopathiesMarjan Huizing, Anirban Ganguli, Jonathan Bolaños, et al.
The Journal of Investigative Dermatology|June 17, 2011
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropeniaAndrew R Cullinane, Thierry Vilboux, Kevin O'Brien, et al.
Blood|October 26, 2006
The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granulesSreenivasulu Chintala, Jian Tan, Rashi Gautam, et al.
Pageof 13