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Knut Brockmann

Showing results (101-110 of 125) with videos related to

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Journal of Medical Genetics|February 14, 2023
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndromeValentina Serpieri, Giulia Mortarini, Hailey Loucks, et al.
Brain Injury|March 21, 2025
Quality of life after brain injury in children and adolescents questionnaire - validation of the proxy version (QOLIBRI-KID/ADO-Proxy)Nicole von Steinbuechel, Marina Zeldovich, Ivana Holloway, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2023
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposisFelix Boschann, Ozgur Cogulu, Davut Pehlivan, et al.
European Journal of Human Genetics : EJHG|March 3, 2016
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)Alessia Micalizzi, Andrea Poretti, Marta Romani, et al.
Neurology|January 4, 2013
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutationsSabine Rudnik-Schöneborn, Jan Senderek, Joanna C Jen, et al.
Brain : a Journal of Neurology|October 19, 2010
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasiaYasmin Namavar, Peter G Barth, Paul R Kasher, et al.
Journal of Medical Genetics|April 10, 2014
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrumAnne Thorwarth, Sarah Schnittert-Hübener, Pamela Schrumpf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2022
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposisFelix Boschann, Muhsin Ö Cogulu, Davut Pehlivan, et al.
Orphanet Journal of Rare Diseases|February 12, 2024
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseasesHolm Graessner, Carola Reinhard, Tobias Bäumer, et al.
The Journal of Clinical Investigation|May 3, 2008
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leakYvonne G Weber, Alexander Storch, Thomas V Wuttke, et al.
Pageof 13

Showing results (101-110 of 125) with videos related to

Sort By:
Pageof 13
Journal of Medical Genetics|February 14, 2023
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndromeValentina Serpieri, Giulia Mortarini, Hailey Loucks, et al.
Brain Injury|March 21, 2025
Quality of life after brain injury in children and adolescents questionnaire - validation of the proxy version (QOLIBRI-KID/ADO-Proxy)Nicole von Steinbuechel, Marina Zeldovich, Ivana Holloway, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2023
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposisFelix Boschann, Ozgur Cogulu, Davut Pehlivan, et al.
European Journal of Human Genetics : EJHG|March 3, 2016
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)Alessia Micalizzi, Andrea Poretti, Marta Romani, et al.
Neurology|January 4, 2013
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutationsSabine Rudnik-Schöneborn, Jan Senderek, Joanna C Jen, et al.
Brain : a Journal of Neurology|October 19, 2010
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasiaYasmin Namavar, Peter G Barth, Paul R Kasher, et al.
Journal of Medical Genetics|April 10, 2014
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrumAnne Thorwarth, Sarah Schnittert-Hübener, Pamela Schrumpf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2022
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposisFelix Boschann, Muhsin Ö Cogulu, Davut Pehlivan, et al.
Orphanet Journal of Rare Diseases|February 12, 2024
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseasesHolm Graessner, Carola Reinhard, Tobias Bäumer, et al.
The Journal of Clinical Investigation|May 3, 2008
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leakYvonne G Weber, Alexander Storch, Thomas V Wuttke, et al.
Pageof 13