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Hanna Mandel

Showing results (21-30 of 127) with videos related to

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Journal of Lipid Research|March 4, 2018
EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humansYasuhiro Horibata, Orly Elpeleg, Ayelet Eran, et al.
International Journal of Molecular Sciences|October 31, 2020
Mammalian Homologue NME3 of DYNAMO1 Regulates Peroxisome DivisionMasanori Honsho, Yuichi Abe, Yuuta Imoto, et al.
Pediatric Endocrinology Reviews : PER|April 11, 2014
Glycogen storage disease type III in Israel: presentation and long-term outcomeEli Hershkovitz, Itay Forschner, Hanna Mandel, et al.
European Journal of Medical Genetics|August 23, 2020
Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4Ayalla Fedida, Shani Ben Harouch, Limor Kalfon, et al.
Molecular Genetics and Metabolism|March 19, 2005
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humansRonen Spiegel, Gideon Bach, Vivi Sury, et al.
Journal of Medical Genetics|May 22, 2016
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduriaHanna Mandel, Shotaro Saita, Simon Edvardson, et al.
European Journal of Medical Genetics|March 1, 2016
A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythmMoran Gal, Daniella Magen, Younan Zahran, et al.
European Journal of Medical Genetics|April 9, 2017
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathyYoav Zehavi, Hanna Mandel, Arie Zehavi, et al.
Journal of Inherited Metabolic Disease|December 15, 2022
Genetic defects in peroxisome morphogenesis (Pex11β, dynamin-like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid-phospholipid metabolismYuichi Abe, Ronald J A Wanders, Hans R Waterham, et al.
Annals of Neurology|October 3, 2009
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosisRonen Spiegel, Avraham Shaag, Simon Edvardson, et al.
Pageof 13

Showing results (21-30 of 127) with videos related to

Sort By:
Pageof 13
Journal of Lipid Research|March 4, 2018
EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humansYasuhiro Horibata, Orly Elpeleg, Ayelet Eran, et al.
International Journal of Molecular Sciences|October 31, 2020
Mammalian Homologue NME3 of DYNAMO1 Regulates Peroxisome DivisionMasanori Honsho, Yuichi Abe, Yuuta Imoto, et al.
Pediatric Endocrinology Reviews : PER|April 11, 2014
Glycogen storage disease type III in Israel: presentation and long-term outcomeEli Hershkovitz, Itay Forschner, Hanna Mandel, et al.
European Journal of Medical Genetics|August 23, 2020
Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4Ayalla Fedida, Shani Ben Harouch, Limor Kalfon, et al.
Molecular Genetics and Metabolism|March 19, 2005
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humansRonen Spiegel, Gideon Bach, Vivi Sury, et al.
Journal of Medical Genetics|May 22, 2016
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduriaHanna Mandel, Shotaro Saita, Simon Edvardson, et al.
European Journal of Medical Genetics|March 1, 2016
A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythmMoran Gal, Daniella Magen, Younan Zahran, et al.
European Journal of Medical Genetics|April 9, 2017
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathyYoav Zehavi, Hanna Mandel, Arie Zehavi, et al.
Journal of Inherited Metabolic Disease|December 15, 2022
Genetic defects in peroxisome morphogenesis (Pex11β, dynamin-like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid-phospholipid metabolismYuichi Abe, Ronald J A Wanders, Hans R Waterham, et al.
Annals of Neurology|October 3, 2009
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosisRonen Spiegel, Avraham Shaag, Simon Edvardson, et al.
Pageof 13