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J Swoboda

Showing results (61-70 of 174) with videos related to

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The Journal of Biological Chemistry|December 26, 2001
V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzymeSteven Pind, Elzbieta Slominski, Jill Mauthe, et al.
The International Journal of Neuroscience|January 20, 2017
Pregnancy and delivery in women with spinal muscular atrophyBakri H Elsheikh, Xiaoli Zhang, Kathryn J Swoboda, et al.
The British Journal of Dermatology|February 27, 2010
Anal carcinoma in human immunodeficiency virus-positive men: results of a prospective study from GermanyA Kreuter, A Potthoff, N H Brockmeyer, et al.
Neurogenetics|January 8, 2021
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCRDeborah L Stabley, Jennifer Holbrook, Mena Scavina, et al.
Neurology|August 26, 2016
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutationsEric G Bend, Yue Si, David A Stevenson, et al.
Neurology|December 29, 2019
Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophyChristiano R R Alves, Ren Zhang, Alec J Johnstone, et al.
Neuromuscular Disorders : NMD|March 26, 2009
A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22Russell J Butterfield, Deepa Ramachandran, Sandra J Hasstedt, et al.
Medrxiv : the Preprint Server for Health Sciences|January 29, 2026
Circulating Tau Profiles in Pediatric and Adult Patients with Spinal Muscular AtrophyLeillani L Ha, Sunayana Mitra, Doreen T Ho, et al.
Neurology|October 16, 1999
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiencyK J Swoboda, K Hyland, D S Goldstein, et al.
The Journal of Clinical Endocrinology and Metabolism|July 15, 1999
Sources and physiological significance of plasma dopamine sulfateD S Goldstein, K J Swoboda, J M Miles, et al.
Pageof 18

Showing results (61-70 of 174) with videos related to

Sort By:
Pageof 18
The Journal of Biological Chemistry|December 26, 2001
V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzymeSteven Pind, Elzbieta Slominski, Jill Mauthe, et al.
The International Journal of Neuroscience|January 20, 2017
Pregnancy and delivery in women with spinal muscular atrophyBakri H Elsheikh, Xiaoli Zhang, Kathryn J Swoboda, et al.
The British Journal of Dermatology|February 27, 2010
Anal carcinoma in human immunodeficiency virus-positive men: results of a prospective study from GermanyA Kreuter, A Potthoff, N H Brockmeyer, et al.
Neurogenetics|January 8, 2021
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCRDeborah L Stabley, Jennifer Holbrook, Mena Scavina, et al.
Neurology|August 26, 2016
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutationsEric G Bend, Yue Si, David A Stevenson, et al.
Neurology|December 29, 2019
Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophyChristiano R R Alves, Ren Zhang, Alec J Johnstone, et al.
Neuromuscular Disorders : NMD|March 26, 2009
A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22Russell J Butterfield, Deepa Ramachandran, Sandra J Hasstedt, et al.
Medrxiv : the Preprint Server for Health Sciences|January 29, 2026
Circulating Tau Profiles in Pediatric and Adult Patients with Spinal Muscular AtrophyLeillani L Ha, Sunayana Mitra, Doreen T Ho, et al.
Neurology|October 16, 1999
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiencyK J Swoboda, K Hyland, D S Goldstein, et al.
The Journal of Clinical Endocrinology and Metabolism|July 15, 1999
Sources and physiological significance of plasma dopamine sulfateD S Goldstein, K J Swoboda, J M Miles, et al.
Pageof 18