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American Journal of Medical Genetics. Part A
|
March 3, 2025
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
Caroline Gully Brown, Matthew Bower, Matthew Schomaker, et al.
International Journal of Neonatal Screening
|
March 27, 2026
Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis
Rithika Thampy, Nishitha R Pillai, Michael Evans, et al.
JIMD Reports
|
January 17, 2025
Phenotypic variability and the gender paradox in the R363C variant of Fabry disease
Alison C Leslie, Jeanine Jarnes, Alia Ahmed, et al.
Expert Opinion on Drug Delivery
|
December 17, 2014
Gene therapy for neurologic manifestations of mucopolysaccharidoses
Daniel A Wolf, Sharbani Banerjee, Perry B Hackett, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
July 14, 2020
Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study
Vĕra Malinová, Manisha Balwani, Reena Sharma, et al.
Molecular Genetics and Metabolism
|
May 7, 2017
Infantile gangliosidoses: Mapping a timeline of clinical changes
Jeanine R Jarnes Utz, Sarah Kim, Kelly King, et al.
Journal of Clinical and Experimental Neuropsychology
|
June 11, 2013
Mucopolysaccharidosis Type IIIA presents as a variant of Klüver-Bucy syndrome
Michael Potegal, Brianna Yund, Kyle Rudser, et al.
Molecular Genetics and Metabolism
|
March 19, 2022
Quantifying medical manifestations in Hurler syndrome with the infant physical symptom score: associations with long-term physical and adaptive outcomes
Alia Ahmed, Kyle Rudser, Kelly E King, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
July 4, 2002
Biodistribution and toxicity studies of VSVG-pseudotyped lentiviral vector after intravenous administration in mice with the observation of in vivo transduction of bone marrow
Dao Pan, Roland Gunther, Weiming Duan, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
April 13, 2020
A Highly Efficacious PS Gene Editing System Corrects Metabolic and Neurological Complications of Mucopolysaccharidosis Type I
Li Ou, Michael J Przybilla, Ozan Ahlat, et al.
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of 12
Search research articles
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Showing results (41-50 of 116) with videos related to
Sort By:
Page
of 12
American Journal of Medical Genetics. Part A
|
March 3, 2025
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
Caroline Gully Brown, Matthew Bower, Matthew Schomaker, et al.
International Journal of Neonatal Screening
|
March 27, 2026
Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis
Rithika Thampy, Nishitha R Pillai, Michael Evans, et al.
JIMD Reports
|
January 17, 2025
Phenotypic variability and the gender paradox in the R363C variant of Fabry disease
Alison C Leslie, Jeanine Jarnes, Alia Ahmed, et al.
Expert Opinion on Drug Delivery
|
December 17, 2014
Gene therapy for neurologic manifestations of mucopolysaccharidoses
Daniel A Wolf, Sharbani Banerjee, Perry B Hackett, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
July 14, 2020
Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study
Vĕra Malinová, Manisha Balwani, Reena Sharma, et al.
Molecular Genetics and Metabolism
|
May 7, 2017
Infantile gangliosidoses: Mapping a timeline of clinical changes
Jeanine R Jarnes Utz, Sarah Kim, Kelly King, et al.
Journal of Clinical and Experimental Neuropsychology
|
June 11, 2013
Mucopolysaccharidosis Type IIIA presents as a variant of Klüver-Bucy syndrome
Michael Potegal, Brianna Yund, Kyle Rudser, et al.
Molecular Genetics and Metabolism
|
March 19, 2022
Quantifying medical manifestations in Hurler syndrome with the infant physical symptom score: associations with long-term physical and adaptive outcomes
Alia Ahmed, Kyle Rudser, Kelly E King, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
July 4, 2002
Biodistribution and toxicity studies of VSVG-pseudotyped lentiviral vector after intravenous administration in mice with the observation of in vivo transduction of bone marrow
Dao Pan, Roland Gunther, Weiming Duan, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
April 13, 2020
A Highly Efficacious PS Gene Editing System Corrects Metabolic and Neurological Complications of Mucopolysaccharidosis Type I
Li Ou, Michael J Przybilla, Ozan Ahlat, et al.
Page
of 12