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Hanna Mandel

Showing results (71-80 of 127) with videos related to

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Journal of Human Genetics|January 13, 2017
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorderTakeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, et al.
Harefuah|July 2, 2023
[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL]Nadra Nasser Samra, Ilham Morani, Hino Bayan, et al.
Journal of Inherited Metabolic Disease|April 16, 2019
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revisionJohannes Häberle, Alberto Burlina, Anupam Chakrapani, et al.
Heart Failure Reviews|February 14, 2012
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)Livia Kapusta, Nili Zucker, George Frenckel, et al.
American Journal of Human Genetics|June 22, 2005
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratodermaEli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, et al.
Neurology|May 3, 2015
Absence of α- and β-dystroglycan is associated with Walker-Warburg syndromeMoniek Riemersma, Hanna Mandel, Ellen van Beusekom, et al.
American Journal of Human Genetics|November 5, 2016
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid GlycineAlina Kurolap, Anja Armbruster, Tova Hershkovitz, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|February 24, 2007
Safe and efficacious allogeneic bone marrow transplantation for nonmalignant disorders using partial T cell depletion and no posttransplantation graft-versus-host-disease prophylaxisRonit Elhasid, Myriam Ben Arush, Irena Zaidman, et al.
Human Molecular Genetics|August 1, 2022
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporterSpyros Batzios, Galit Tal, Andrew T DiStasio, et al.
Journal of Cellular and Molecular Medicine|December 2, 2017
Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytesTova Hallas, Binyamin Eisen, Yuval Shemer, et al.
Pageof 13

Showing results (71-80 of 127) with videos related to

Sort By:
Pageof 13
Journal of Human Genetics|January 13, 2017
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorderTakeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, et al.
Harefuah|July 2, 2023
[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL]Nadra Nasser Samra, Ilham Morani, Hino Bayan, et al.
Journal of Inherited Metabolic Disease|April 16, 2019
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revisionJohannes Häberle, Alberto Burlina, Anupam Chakrapani, et al.
Heart Failure Reviews|February 14, 2012
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)Livia Kapusta, Nili Zucker, George Frenckel, et al.
American Journal of Human Genetics|June 22, 2005
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratodermaEli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, et al.
Neurology|May 3, 2015
Absence of α- and β-dystroglycan is associated with Walker-Warburg syndromeMoniek Riemersma, Hanna Mandel, Ellen van Beusekom, et al.
American Journal of Human Genetics|November 5, 2016
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid GlycineAlina Kurolap, Anja Armbruster, Tova Hershkovitz, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|February 24, 2007
Safe and efficacious allogeneic bone marrow transplantation for nonmalignant disorders using partial T cell depletion and no posttransplantation graft-versus-host-disease prophylaxisRonit Elhasid, Myriam Ben Arush, Irena Zaidman, et al.
Human Molecular Genetics|August 1, 2022
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporterSpyros Batzios, Galit Tal, Andrew T DiStasio, et al.
Journal of Cellular and Molecular Medicine|December 2, 2017
Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytesTova Hallas, Binyamin Eisen, Yuval Shemer, et al.
Pageof 13