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Hanna Mandel

Showing results (91-100 of 127) with videos related to

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Pediatric Research|June 23, 2009
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe diseasePriya S Kishnani, Deya Corzo, Nancy D Leslie, et al.
Journal of Medical Genetics|July 17, 2023
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropeniaNadra Samra, Nicolette S Jansen, Ilham Morani, et al.
Journal of Medical Genetics|August 6, 2025
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identificationShlomit Ezer, Tal Sido, Jonathan Rips, et al.
Human Mutation|January 10, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial diseaseFrancesco Bruni, Ivano Di Meo, Emanuele Bellacchio, et al.
Neurology. Genetics|March 27, 2018
<i>ACO2</i> homozygous missense mutation associated with complicated hereditary spastic paraplegiaChristian G Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, et al.
Human Mutation|October 15, 2008
Molecular investigations to improve diagnostic accuracy in patients with ARC syndromeAndrew R Cullinane, Anna Straatman-Iwanowska, Jeong K Seo, et al.
American Journal of Ophthalmology|November 16, 2023
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1Karynne Patterson, Jessica X Chong, Doug D Chung, et al.
Human Genetics|August 10, 2006
Clinical and molecular genetic features of ARC syndromePaul Gissen, Louise Tee, Colin A Johnson, et al.
Plos Genetics|January 14, 2012
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationDirk J Lefeber, Arjan P M de Brouwer, Eva Morava, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2009
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe diseaseMarc Nicolino, Barry Byrne, J Edmund Wraith, et al.
Pageof 13

Showing results (91-100 of 127) with videos related to

Sort By:
Pageof 13
Pediatric Research|June 23, 2009
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe diseasePriya S Kishnani, Deya Corzo, Nancy D Leslie, et al.
Journal of Medical Genetics|July 17, 2023
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropeniaNadra Samra, Nicolette S Jansen, Ilham Morani, et al.
Journal of Medical Genetics|August 6, 2025
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identificationShlomit Ezer, Tal Sido, Jonathan Rips, et al.
Human Mutation|January 10, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial diseaseFrancesco Bruni, Ivano Di Meo, Emanuele Bellacchio, et al.
Neurology. Genetics|March 27, 2018
<i>ACO2</i> homozygous missense mutation associated with complicated hereditary spastic paraplegiaChristian G Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, et al.
Human Mutation|October 15, 2008
Molecular investigations to improve diagnostic accuracy in patients with ARC syndromeAndrew R Cullinane, Anna Straatman-Iwanowska, Jeong K Seo, et al.
American Journal of Ophthalmology|November 16, 2023
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1Karynne Patterson, Jessica X Chong, Doug D Chung, et al.
Human Genetics|August 10, 2006
Clinical and molecular genetic features of ARC syndromePaul Gissen, Louise Tee, Colin A Johnson, et al.
Plos Genetics|January 14, 2012
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationDirk J Lefeber, Arjan P M de Brouwer, Eva Morava, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2009
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe diseaseMarc Nicolino, Barry Byrne, J Edmund Wraith, et al.
Pageof 13