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Michael F Wangler

Showing results (21-30 of 114) with videos related to

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Journal of Pediatric Hematology/Oncology|February 22, 2013
Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndromeMichael F Wangler, Rishikesh Chavan, M John Hicks, et al.
Molecular Genetics and Metabolism|August 11, 2023
Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disordersMichael F Wangler, Barbara Lesko, Rejwi Dahal, et al.
Molecular Genetics and Metabolism Reports|December 9, 2015
A homozygous mutation in <i>PEX16</i> identified by whole-exome sequencing ending a diagnostic odysseyCarlos Bacino, Yu-Hsin Chao, Elaine Seto, et al.
Data in Brief|February 13, 2016
Dataset for a case report of a homozygous PEX16 F332del mutationCarlos Bacino, Yu-Hsin Chao, Elaine Seto, et al.
Molecular Genetics & Genomic Medicine|February 26, 2024
Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing lossRyan J German, Blake Vuocolo, Liesbeth Vossaert, et al.
Brain : a Journal of Neurology|March 13, 2018
The expanding neurological phenotype of DNM1L-related disordersMichael F Wangler, Nurit Assia Batzir, Laurie A Robak, et al.
Biomolecules|January 28, 2026
Metabolomic Profiling Reveals Brain Lipid Alterations in <i>PEX7</i>-Deficient Models of Rhizomelic Chondrodysplasia PunctataRiya Sankhe, Meredith I Williams, Wedad Fallatah, et al.
Molecular Genetics and Metabolism|March 19, 2011
Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutationGary Fruhman, Megan L Landsverk, Timothy E Lotze, et al.
Frontiers in Cell and Developmental Biology|November 2, 2020
An <i>SCN1B</i> Variant Affects Both Cardiac-Type (Na<sub>V</sub>1.5) and Brain-Type (Na<sub>V</sub>1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac DisordersRebecca Martinez-Moreno, Elisabet Selga, Helena Riuró, et al.
Human Molecular Genetics|March 3, 2016
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in DrosophilaYu-Hsin Chao, Laurie A Robak, Fan Xia, et al.
Pageof 12

Showing results (21-30 of 114) with videos related to

Sort By:
Pageof 12
Journal of Pediatric Hematology/Oncology|February 22, 2013
Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndromeMichael F Wangler, Rishikesh Chavan, M John Hicks, et al.
Molecular Genetics and Metabolism|August 11, 2023
Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disordersMichael F Wangler, Barbara Lesko, Rejwi Dahal, et al.
Molecular Genetics and Metabolism Reports|December 9, 2015
A homozygous mutation in <i>PEX16</i> identified by whole-exome sequencing ending a diagnostic odysseyCarlos Bacino, Yu-Hsin Chao, Elaine Seto, et al.
Data in Brief|February 13, 2016
Dataset for a case report of a homozygous PEX16 F332del mutationCarlos Bacino, Yu-Hsin Chao, Elaine Seto, et al.
Molecular Genetics & Genomic Medicine|February 26, 2024
Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing lossRyan J German, Blake Vuocolo, Liesbeth Vossaert, et al.
Brain : a Journal of Neurology|March 13, 2018
The expanding neurological phenotype of DNM1L-related disordersMichael F Wangler, Nurit Assia Batzir, Laurie A Robak, et al.
Biomolecules|January 28, 2026
Metabolomic Profiling Reveals Brain Lipid Alterations in <i>PEX7</i>-Deficient Models of Rhizomelic Chondrodysplasia PunctataRiya Sankhe, Meredith I Williams, Wedad Fallatah, et al.
Molecular Genetics and Metabolism|March 19, 2011
Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutationGary Fruhman, Megan L Landsverk, Timothy E Lotze, et al.
Frontiers in Cell and Developmental Biology|November 2, 2020
An <i>SCN1B</i> Variant Affects Both Cardiac-Type (Na<sub>V</sub>1.5) and Brain-Type (Na<sub>V</sub>1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac DisordersRebecca Martinez-Moreno, Elisabet Selga, Helena Riuró, et al.
Human Molecular Genetics|March 3, 2016
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in DrosophilaYu-Hsin Chao, Laurie A Robak, Fan Xia, et al.
Pageof 12