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Lynne Wolfe

Showing results (11-20 of 42) with videos related to

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JIMD Reports|June 18, 2025
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage DisorderMarya S Sabir, Laura Pollard, Lynne Wolfe, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 1, 2020
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literatureMalena Daich Varela, Priyam Jani, Wadih M Zein, et al.
Neuromuscular Disorders : NMD|February 12, 2023
MYH2-associated myopathy caused by a novel splice-site variantThomas A Cassini, May Christine V Malicdan, Ellen F Macnamara, et al.
BMC Neurology|July 2, 2025
An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case reportZoe Wolfenson, Daniel Benavides, Connor J Lewis, et al.
Molecular Genetics and Metabolism|March 19, 2018
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiencyPatricia L Hall, Christina Lam, John J Alexander, et al.
Plos Genetics|November 1, 2021
FOXR1 regulates stress response pathways and is necessary for proper brain developmentAndressa Mota, Hannah K Waxman, Rui Hong, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelinationLaila Shehata, Dimitre R Simeonov, Anja Raams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2014
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceLauren Lawrence, Murat Sincan, Thomas Markello, et al.
Journal of Inherited Metabolic Disease|June 18, 2022
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelinesDaniah Albokhari, Bobby G Ng, Alis Guberinic, et al.
Journal of Inherited Metabolic Disease|May 1, 2022
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases ProgramCarolina Montano, Thomas Cassini, Shira G Ziegler, et al.
Pageof 5

Showing results (11-20 of 42) with videos related to

Sort By:
Pageof 5
JIMD Reports|June 18, 2025
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage DisorderMarya S Sabir, Laura Pollard, Lynne Wolfe, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 1, 2020
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literatureMalena Daich Varela, Priyam Jani, Wadih M Zein, et al.
Neuromuscular Disorders : NMD|February 12, 2023
MYH2-associated myopathy caused by a novel splice-site variantThomas A Cassini, May Christine V Malicdan, Ellen F Macnamara, et al.
BMC Neurology|July 2, 2025
An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case reportZoe Wolfenson, Daniel Benavides, Connor J Lewis, et al.
Molecular Genetics and Metabolism|March 19, 2018
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiencyPatricia L Hall, Christina Lam, John J Alexander, et al.
Plos Genetics|November 1, 2021
FOXR1 regulates stress response pathways and is necessary for proper brain developmentAndressa Mota, Hannah K Waxman, Rui Hong, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelinationLaila Shehata, Dimitre R Simeonov, Anja Raams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2014
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceLauren Lawrence, Murat Sincan, Thomas Markello, et al.
Journal of Inherited Metabolic Disease|June 18, 2022
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelinesDaniah Albokhari, Bobby G Ng, Alis Guberinic, et al.
Journal of Inherited Metabolic Disease|May 1, 2022
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases ProgramCarolina Montano, Thomas Cassini, Shira G Ziegler, et al.
Pageof 5