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Nico Fuhrmann

Showing results (11-20 of 16) with videos related to

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American Journal of Human Genetics|February 13, 2026
SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutionsBrunhilde Wirth, Joyosmita Das, Heike Kölbel, et al.
Human Mutation|February 18, 2021
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron diseaseNatalie Keller, Cem Paketci, Janine Altmueller, et al.
American Journal of Human Genetics|September 16, 2020
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi FragmentationNatalia Mendoza-Ferreira, Mert Karakaya, Nur Cengiz, et al.
Human Molecular Genetics|February 26, 2011
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16Valerio Carelli, Simone Schimpf, Nico Fuhrmann, et al.
European Journal of Human Genetics : EJHG|May 22, 2024
Comparison of the ABC and ACMG systems for variant classificationGunnar Houge, Eirik Bratland, Ingvild Aukrust, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson SyndromeKimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, et al.
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Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
American Journal of Human Genetics|February 13, 2026
SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutionsBrunhilde Wirth, Joyosmita Das, Heike Kölbel, et al.
Human Mutation|February 18, 2021
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron diseaseNatalie Keller, Cem Paketci, Janine Altmueller, et al.
American Journal of Human Genetics|September 16, 2020
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi FragmentationNatalia Mendoza-Ferreira, Mert Karakaya, Nur Cengiz, et al.
Human Molecular Genetics|February 26, 2011
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16Valerio Carelli, Simone Schimpf, Nico Fuhrmann, et al.
European Journal of Human Genetics : EJHG|May 22, 2024
Comparison of the ABC and ACMG systems for variant classificationGunnar Houge, Eirik Bratland, Ingvild Aukrust, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson SyndromeKimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, et al.
Pageof 2