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Lisa Kratz

Showing results (11-20 of 30) with videos related to

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Annals of Indian Academy of Neurology|July 2, 2020
Guanidinoacetate Methyltransferase (GAMT) Deficiency, A Cerebral Creatine Deficiency Syndrome: A Rare Treatable Metabolic DisorderSangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, et al.
JIMD Reports|May 8, 2023
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortemRaeLynn Forsyth, Ryan H Peretz, Angela Dempsey, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 18, 2026
Lamin B receptor upregulation in metastatic melanoma causes nuclear envelope fragility in confined migration during cancer invasionMichelle A Baird, Cayla E Jewett, Daniela A Malide, et al.
Annals of Indian Academy of Neurology|October 10, 2022
Fumaric Aciduria: A Rare Cause of Refractory EpilepsySangeetha Yoganathan, Rangan Srinivasaraghavan, Madhan Kumar, et al.
JIMD Reports|October 24, 2018
Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase DeficiencyChristina Peroutka, Jacqueline Salas, Jacquelyn Britton, et al.
Human Molecular Genetics|February 1, 2006
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapyLina S Correa-Cerro, Christopher A Wassif, Lisa Kratz, et al.
Journal of Child Neurology|December 3, 2003
Clinical variability in Rett syndromeSakkuBai Naidu, Genila Bibat, Lisa Kratz, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literatureChristian P Schaaf, Janet Koster, Panagiotis Katsonis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2016
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndromeChristopher A Wassif, Lisa Kratz, Susan E Sparks, et al.
Plos One|July 18, 2013
A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA patternNicolas Gauthier, Jiang Wei Wu, Shu Pei Wang, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
Annals of Indian Academy of Neurology|July 2, 2020
Guanidinoacetate Methyltransferase (GAMT) Deficiency, A Cerebral Creatine Deficiency Syndrome: A Rare Treatable Metabolic DisorderSangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, et al.
JIMD Reports|May 8, 2023
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortemRaeLynn Forsyth, Ryan H Peretz, Angela Dempsey, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 18, 2026
Lamin B receptor upregulation in metastatic melanoma causes nuclear envelope fragility in confined migration during cancer invasionMichelle A Baird, Cayla E Jewett, Daniela A Malide, et al.
Annals of Indian Academy of Neurology|October 10, 2022
Fumaric Aciduria: A Rare Cause of Refractory EpilepsySangeetha Yoganathan, Rangan Srinivasaraghavan, Madhan Kumar, et al.
JIMD Reports|October 24, 2018
Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase DeficiencyChristina Peroutka, Jacqueline Salas, Jacquelyn Britton, et al.
Human Molecular Genetics|February 1, 2006
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapyLina S Correa-Cerro, Christopher A Wassif, Lisa Kratz, et al.
Journal of Child Neurology|December 3, 2003
Clinical variability in Rett syndromeSakkuBai Naidu, Genila Bibat, Lisa Kratz, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literatureChristian P Schaaf, Janet Koster, Panagiotis Katsonis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2016
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndromeChristopher A Wassif, Lisa Kratz, Susan E Sparks, et al.
Plos One|July 18, 2013
A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA patternNicolas Gauthier, Jiang Wei Wu, Shu Pei Wang, et al.
Pageof 3