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Hanna Mandel

Showing results (31-40 of 127) with videos related to

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European Journal of Medical Genetics|May 23, 2021
Concomitant congenital CMV infection and inherited liver diseasesRana Swed-Tobia, Imad Kassis, Karin Weiss, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 25, 2009
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variabilityTzipora C Falik-Zaccai, Morad Khayat, Anthony Luder, et al.
European Journal of Human Genetics : EJHG|March 5, 2009
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus JewsRonen Spiegel, Avraham Shaag, Hanna Mandel, et al.
Pediatric Blood & Cancer|February 3, 2021
Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single-center experience underscoring the multiple factors involved in the prognosisIrina Zaidman, Ronit Elhasid, Aharon Gefen, et al.
The Journal of Biological Chemistry|January 27, 2004
Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotypeJacinta L Chuang, R Max Wynn, Clint C Moss, et al.
Pediatric Research|November 25, 2003
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorderJeannette Gootjes, Orly Elpeleg, François Eyskens, et al.
Harefuah|May 29, 2017
[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE]Limor Kalfon, Irit Weissman, Miriam Hershkovits, et al.
Molecular Genetics & Genomic Medicine|December 31, 2021
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variantsLimor Kalfon, Meirav Baydany, Nadra Samra, et al.
Journal of Proteome Research|March 18, 2011
Proteomics reveals that redox regulation is disrupted in patients with ethylmalonic encephalopathyJohan Palmfeldt, Søren Vang, Vibeke Stenbroen, et al.
Journal of Personalized Medicine|November 27, 2021
Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe DiseaseRonen Bar-Yoseph, Galit Tal, Elena Dumin, et al.
Pageof 13

Showing results (31-40 of 127) with videos related to

Sort By:
Pageof 13
European Journal of Medical Genetics|May 23, 2021
Concomitant congenital CMV infection and inherited liver diseasesRana Swed-Tobia, Imad Kassis, Karin Weiss, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 25, 2009
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variabilityTzipora C Falik-Zaccai, Morad Khayat, Anthony Luder, et al.
European Journal of Human Genetics : EJHG|March 5, 2009
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus JewsRonen Spiegel, Avraham Shaag, Hanna Mandel, et al.
Pediatric Blood & Cancer|February 3, 2021
Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single-center experience underscoring the multiple factors involved in the prognosisIrina Zaidman, Ronit Elhasid, Aharon Gefen, et al.
The Journal of Biological Chemistry|January 27, 2004
Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotypeJacinta L Chuang, R Max Wynn, Clint C Moss, et al.
Pediatric Research|November 25, 2003
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorderJeannette Gootjes, Orly Elpeleg, François Eyskens, et al.
Harefuah|May 29, 2017
[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE]Limor Kalfon, Irit Weissman, Miriam Hershkovits, et al.
Molecular Genetics & Genomic Medicine|December 31, 2021
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variantsLimor Kalfon, Meirav Baydany, Nadra Samra, et al.
Journal of Proteome Research|March 18, 2011
Proteomics reveals that redox regulation is disrupted in patients with ethylmalonic encephalopathyJohan Palmfeldt, Søren Vang, Vibeke Stenbroen, et al.
Journal of Personalized Medicine|November 27, 2021
Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe DiseaseRonen Bar-Yoseph, Galit Tal, Elena Dumin, et al.
Pageof 13