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Hanna Mandel

Showing results (61-70 of 127) with videos related to

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American Journal of Medical Genetics. Part A|June 20, 2017
Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation)Maya Yardeni, Omri Weisman, Hanna Mandel, et al.
Human Genetics|January 7, 2015
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5Daniella Magen, Ayala Ofir, Liron Berger, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationshipRonen Spiegel, Hanna Mandel, Ann Saada, et al.
American Journal of Human Genetics|June 24, 2008
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophyDaniella Magen, Costa Georgopoulos, Peter Bross, et al.
Journal of Lipid Research|August 24, 2018
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatmentAndrea E DeBarber, Limor Kalfon, Ayalla Fedida, et al.
American Journal of Human Genetics|September 8, 2009
Acute infantile liver failure due to mutations in the TRMU geneAvraham Zeharia, Avraham Shaag, Orit Pappo, et al.
Journal of Hepatology|December 25, 2009
Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' dietZiv Ben-Ari, Adam Dalal, Ady Morry, et al.
Human Mutation|July 9, 2004
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolismJeannette Gootjes, Frank Schmohl, Petra A W Mooijer, et al.
American Journal of Human Genetics|October 19, 2010
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complexRami Kaufmann, Rachel Straussberg, Hanna Mandel, et al.
Molecular Genetics and Metabolism|September 25, 2009
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infantsPriya S Kishnani, Paula C Goldenberg, Stephanie L DeArmey, et al.
Pageof 13

Showing results (61-70 of 127) with videos related to

Sort By:
Pageof 13
American Journal of Medical Genetics. Part A|June 20, 2017
Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation)Maya Yardeni, Omri Weisman, Hanna Mandel, et al.
Human Genetics|January 7, 2015
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5Daniella Magen, Ayala Ofir, Liron Berger, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationshipRonen Spiegel, Hanna Mandel, Ann Saada, et al.
American Journal of Human Genetics|June 24, 2008
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophyDaniella Magen, Costa Georgopoulos, Peter Bross, et al.
Journal of Lipid Research|August 24, 2018
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatmentAndrea E DeBarber, Limor Kalfon, Ayalla Fedida, et al.
American Journal of Human Genetics|September 8, 2009
Acute infantile liver failure due to mutations in the TRMU geneAvraham Zeharia, Avraham Shaag, Orit Pappo, et al.
Journal of Hepatology|December 25, 2009
Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' dietZiv Ben-Ari, Adam Dalal, Ady Morry, et al.
Human Mutation|July 9, 2004
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolismJeannette Gootjes, Frank Schmohl, Petra A W Mooijer, et al.
American Journal of Human Genetics|October 19, 2010
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complexRami Kaufmann, Rachel Straussberg, Hanna Mandel, et al.
Molecular Genetics and Metabolism|September 25, 2009
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infantsPriya S Kishnani, Paula C Goldenberg, Stephanie L DeArmey, et al.
Pageof 13