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Wim Wuyts

Showing results (101-110 of 135) with videos related to

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Molecular Genetics and Metabolism|February 27, 2018
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiencyMonique Fontaine, Isabelle Kim, Anne-Frédérique Dessein, et al.
ERJ Open Research|January 27, 2022
Epidemiology of interstitial lung diseases and their progressive-fibrosing behaviour in six European countriesOle Hilberg, Anna-Maria Hoffmann-Vold, Vanessa Smith, et al.
Human Mutation|April 1, 2015
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
ERJ Open Research|October 26, 2019
Gaps in care of patients living with pulmonary fibrosis: a joint patient and expert statement on the results of a Europe-wide surveyCatharina C Moor, Marlies S Wijsenbeek, Elisabetta Balestro, et al.
Human Mutation|October 13, 2015
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye AnomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
Plos Genetics|November 9, 2013
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humansMariana Igoillo-Esteve, Anne Genin, Nelle Lambert, et al.
ERJ Open Research|February 18, 2026
Prognostic biomarkers for idiopathic pulmonary fibrosis: findings from ISABELA clinical trialsMatthew J Randall, Claus A Andersen, Kevin K Brown, et al.
JMIR Medical Informatics|July 13, 2021
Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics CentersJoséphine Lantoine, Anne Brysse, Vinciane Dideberg, et al.
American Journal of Human Genetics|January 27, 2026
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing lossNicole Bertola, Eléonore Blondiaux, Madeleine Harion, et al.
The New England Journal of Medicine|March 11, 2026
Inhaled Treprostinil for Idiopathic Pulmonary FibrosisSteven D Nathan, Peter Smith, Chunqin Deng, et al.
Pageof 14

Showing results (101-110 of 135) with videos related to

Sort By:
Pageof 14
Molecular Genetics and Metabolism|February 27, 2018
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiencyMonique Fontaine, Isabelle Kim, Anne-Frédérique Dessein, et al.
ERJ Open Research|January 27, 2022
Epidemiology of interstitial lung diseases and their progressive-fibrosing behaviour in six European countriesOle Hilberg, Anna-Maria Hoffmann-Vold, Vanessa Smith, et al.
Human Mutation|April 1, 2015
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
ERJ Open Research|October 26, 2019
Gaps in care of patients living with pulmonary fibrosis: a joint patient and expert statement on the results of a Europe-wide surveyCatharina C Moor, Marlies S Wijsenbeek, Elisabetta Balestro, et al.
Human Mutation|October 13, 2015
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye AnomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
Plos Genetics|November 9, 2013
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humansMariana Igoillo-Esteve, Anne Genin, Nelle Lambert, et al.
ERJ Open Research|February 18, 2026
Prognostic biomarkers for idiopathic pulmonary fibrosis: findings from ISABELA clinical trialsMatthew J Randall, Claus A Andersen, Kevin K Brown, et al.
JMIR Medical Informatics|July 13, 2021
Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics CentersJoséphine Lantoine, Anne Brysse, Vinciane Dideberg, et al.
American Journal of Human Genetics|January 27, 2026
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing lossNicole Bertola, Eléonore Blondiaux, Madeleine Harion, et al.
The New England Journal of Medicine|March 11, 2026
Inhaled Treprostinil for Idiopathic Pulmonary FibrosisSteven D Nathan, Peter Smith, Chunqin Deng, et al.
Pageof 14