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Matias Wagner

Showing results (151-160 of 188) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
Rare variants in <i>PPFIA3</i> cause delayed development, intellectual disability, autism, and epilepsyMaimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2022
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signalingAlexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, et al.
Science Advances|May 1, 2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafishVictoria Patterson, Farid Ullah, Laura Bryant, et al.
Genome Medicine|February 19, 2026
A novel spliceosomopathy caused by de novo SF3B3 variantsLuciana Musante, Pavel Janos, Giulia Pianigiani, et al.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
Genome Medicine|April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.
Brain : a Journal of Neurology|June 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathyMaureen Jacob, Heike Kölbel, Philip Harrer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
PIGG variant pathogenicity assessment reveals characteristic features within 19 familiesCamille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, et al.
Annals of Neurology|August 19, 2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal AbnormalitiesDora Steel, Michael Zech, Chen Zhao, et al.
The Journal of Clinical Investigation|January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathySarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
Pageof 19

Showing results (151-160 of 188) with videos related to

Sort By:
Pageof 19
Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
Rare variants in <i>PPFIA3</i> cause delayed development, intellectual disability, autism, and epilepsyMaimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2022
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signalingAlexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, et al.
Science Advances|May 1, 2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafishVictoria Patterson, Farid Ullah, Laura Bryant, et al.
Genome Medicine|February 19, 2026
A novel spliceosomopathy caused by de novo SF3B3 variantsLuciana Musante, Pavel Janos, Giulia Pianigiani, et al.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
Genome Medicine|April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.
Brain : a Journal of Neurology|June 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathyMaureen Jacob, Heike Kölbel, Philip Harrer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
PIGG variant pathogenicity assessment reveals characteristic features within 19 familiesCamille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, et al.
Annals of Neurology|August 19, 2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal AbnormalitiesDora Steel, Michael Zech, Chen Zhao, et al.
The Journal of Clinical Investigation|January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathySarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
Pageof 19