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M Bosch

Showing results (401-410 of 412) with videos related to

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Frontiers in Genetics|March 1, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members reviewBianca Panis, E Naomi Vos, Ivo Barić, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 5, 2017
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlationsChun-An Chen, Daniëlle G M Bosch, Megan T Cho ScM, et al.
Journal of Inherited Metabolic Disease|June 20, 2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathwayKimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Orphanet Journal of Rare Diseases|April 29, 2019
The natural history of classic galactosemia: lessons from the GalNet registryM E Rubio-Gozalbo, M Haskovic, A M Bosch, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Brain : a Journal of Neurology|August 12, 2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonusSerena Galosi, Ban H Edani, Simone Martinelli, et al.
Environmental Science & Policy|November 1, 2021
The aquaculture supply chain in the time of covid-19 pandemic: Vulnerability, resilience, solutions and priorities at the global scaleM C Mangano, M Berlino, L Corbari, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2025
The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)Linda A J Hendricks, Katja C J Verbeek, Janneke H M Schuurs-Hoeijmakers, et al.
Human Genetics|May 24, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromesNiels Vos, Sadegheh Haghshenas, Liselot van der Laan, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeJung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.
Pageof 42

Showing results (401-410 of 412) with videos related to

Sort By:
Pageof 42
Frontiers in Genetics|March 1, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members reviewBianca Panis, E Naomi Vos, Ivo Barić, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 5, 2017
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlationsChun-An Chen, Daniëlle G M Bosch, Megan T Cho ScM, et al.
Journal of Inherited Metabolic Disease|June 20, 2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathwayKimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Orphanet Journal of Rare Diseases|April 29, 2019
The natural history of classic galactosemia: lessons from the GalNet registryM E Rubio-Gozalbo, M Haskovic, A M Bosch, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Brain : a Journal of Neurology|August 12, 2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonusSerena Galosi, Ban H Edani, Simone Martinelli, et al.
Environmental Science & Policy|November 1, 2021
The aquaculture supply chain in the time of covid-19 pandemic: Vulnerability, resilience, solutions and priorities at the global scaleM C Mangano, M Berlino, L Corbari, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2025
The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)Linda A J Hendricks, Katja C J Verbeek, Janneke H M Schuurs-Hoeijmakers, et al.
Human Genetics|May 24, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromesNiels Vos, Sadegheh Haghshenas, Liselot van der Laan, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeJung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.
Pageof 42