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Felix Distelmaier

Showing results (31-40 of 151) with videos related to

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JIMD Reports|July 8, 2024
Riboflavin transporter deficiency in young adults unmasked by dietary changesBregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, et al.
Journal of Inherited Metabolic Disease|September 10, 2020
The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondriaMiroslav P Milev, Djenann Saint-Dic, Khashayar Zardoui, et al.
Experimental Gerontology|January 17, 2012
MICS-1 interacts with mitochondrial ATAD-3 and modulates lifespan in C. elegansMichael Hoffmann, Sebastian Honnen, Ertan Mayatepek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 24, 2019
Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemiaFabian Baertling, Matias Wagner, Theresa Brunet, et al.
Stem Cell Research|September 10, 2025
CRISPR/Cas9-mediated editing of COQ4 in induced pluripotent stem cells: A model for investigating COQ4-associated human coenzyme Q<sub>10</sub> deficiencySonja Herbrich, Haribaskar Ramachandran, Annette Seibt, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|July 25, 2016
The many faces of paediatric mitochondrial disease on neuroimagingFabian Baertling, Dirk Klee, Tobias B Haack, et al.
Pediatrics|April 4, 2018
Blue Diaper Syndrome and <i>PCSK1</i> MutationsFelix Distelmaier, Diran Herebian, Claudia Atasever, et al.
Cancer|September 26, 2006
Ovarian small cell carcinoma of the hypercalcemic type in children and adolescents: a prognostically unfavorable but curable diseaseFelix Distelmaier, Gabriele Calaminus, Dieter Harms, et al.
European Journal of Pediatrics|September 20, 2014
Malonic aciduria: long-term follow-up of new patients detected by newborn screeningFabian Baertling, Ertan Mayatepek, Eva Thimm, et al.
Brain : a Journal of Neurology|June 26, 2021
MATR3 haploinsufficiency and early-onset neurodegenerationMichael Zech, Annette Seibt, Barbara Zumbaum, et al.
Pageof 16

Showing results (31-40 of 151) with videos related to

Sort By:
Pageof 16
JIMD Reports|July 8, 2024
Riboflavin transporter deficiency in young adults unmasked by dietary changesBregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, et al.
Journal of Inherited Metabolic Disease|September 10, 2020
The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondriaMiroslav P Milev, Djenann Saint-Dic, Khashayar Zardoui, et al.
Experimental Gerontology|January 17, 2012
MICS-1 interacts with mitochondrial ATAD-3 and modulates lifespan in C. elegansMichael Hoffmann, Sebastian Honnen, Ertan Mayatepek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 24, 2019
Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemiaFabian Baertling, Matias Wagner, Theresa Brunet, et al.
Stem Cell Research|September 10, 2025
CRISPR/Cas9-mediated editing of COQ4 in induced pluripotent stem cells: A model for investigating COQ4-associated human coenzyme Q<sub>10</sub> deficiencySonja Herbrich, Haribaskar Ramachandran, Annette Seibt, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|July 25, 2016
The many faces of paediatric mitochondrial disease on neuroimagingFabian Baertling, Dirk Klee, Tobias B Haack, et al.
Pediatrics|April 4, 2018
Blue Diaper Syndrome and <i>PCSK1</i> MutationsFelix Distelmaier, Diran Herebian, Claudia Atasever, et al.
Cancer|September 26, 2006
Ovarian small cell carcinoma of the hypercalcemic type in children and adolescents: a prognostically unfavorable but curable diseaseFelix Distelmaier, Gabriele Calaminus, Dieter Harms, et al.
European Journal of Pediatrics|September 20, 2014
Malonic aciduria: long-term follow-up of new patients detected by newborn screeningFabian Baertling, Ertan Mayatepek, Eva Thimm, et al.
Brain : a Journal of Neurology|June 26, 2021
MATR3 haploinsufficiency and early-onset neurodegenerationMichael Zech, Annette Seibt, Barbara Zumbaum, et al.
Pageof 16