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Hanna Mandel

Showing results (41-50 of 127) with videos related to

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American Journal of Medical Genetics|July 13, 2002
C7 complement deficiency in an Israeli Arab villageDoron Behar, Menachem Schlesinger, David Halle, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1Ofer Sarig, Dorit Goldsher, Janna Nousbeck, et al.
Nature Genetics|February 19, 2003
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemiaStephan M Tanner, Maria Aminoff, Fred A Wright, et al.
Pediatric Neurology|March 18, 2014
Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern IsraelAdi Mory, Efrat Dagan, Ishai Shahor, et al.
Orphanet Journal of Rare Diseases|June 22, 2013
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapySean N Prater, Trusha T Patel, Anne F Buckley, et al.
Acta Neuropathologica Communications|January 4, 2014
The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patientsErin J Feeney, Stephanie Austin, Yin-Hsiu Chien, et al.
American Journal of Nephrology|June 18, 2005
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in IsraelYaacov Frishberg, Choni Rinat, Adel Shalata, et al.
European Journal of Medical Genetics|October 2, 2014
Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 geneHanna Mandel, Ksenya Cohen Katsanelson, Morad Khayat, et al.
Prenatal Diagnosis|January 22, 2005
DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiencyRikke K J Olsen, Brage S Andresen, Ernst Christensen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2008
Population screening in a Druze community: the challenge and the rewardTzipora C Falik-Zaccai, Nechama Kfir, Pnina Frenkel, et al.
Pageof 13

Showing results (41-50 of 127) with videos related to

Sort By:
Pageof 13
American Journal of Medical Genetics|July 13, 2002
C7 complement deficiency in an Israeli Arab villageDoron Behar, Menachem Schlesinger, David Halle, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1Ofer Sarig, Dorit Goldsher, Janna Nousbeck, et al.
Nature Genetics|February 19, 2003
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemiaStephan M Tanner, Maria Aminoff, Fred A Wright, et al.
Pediatric Neurology|March 18, 2014
Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern IsraelAdi Mory, Efrat Dagan, Ishai Shahor, et al.
Orphanet Journal of Rare Diseases|June 22, 2013
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapySean N Prater, Trusha T Patel, Anne F Buckley, et al.
Acta Neuropathologica Communications|January 4, 2014
The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patientsErin J Feeney, Stephanie Austin, Yin-Hsiu Chien, et al.
American Journal of Nephrology|June 18, 2005
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in IsraelYaacov Frishberg, Choni Rinat, Adel Shalata, et al.
European Journal of Medical Genetics|October 2, 2014
Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 geneHanna Mandel, Ksenya Cohen Katsanelson, Morad Khayat, et al.
Prenatal Diagnosis|January 22, 2005
DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiencyRikke K J Olsen, Brage S Andresen, Ernst Christensen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2008
Population screening in a Druze community: the challenge and the rewardTzipora C Falik-Zaccai, Nechama Kfir, Pnina Frenkel, et al.
Pageof 13