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Showing results (261-270 of 276) with videos related to

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The Lancet. Oncology|July 19, 2024
Celiac plexus radiosurgery for pain management in advanced cancer: a multicentre, single-arm, phase 2 trialYaacov R Lawrence, Marcin Miszczyk, Laura A Dawson, et al.
Epilepsy & Behavior : E&B|December 16, 2021
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathyClaire Bar, Delphine Breuillard, Mathieu Kuchenbuch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disordersHalie J May, Jaehoon Jeong, Anya Revah-Politi, et al.
EMBO Molecular Medicine|December 19, 2025
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delaySøren H Hough, Satpal S Jhujh, Samah W Awwad, et al.
American Journal of Human Genetics|October 3, 2017
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal DefectsRoberta De Mori, Marta Romani, Stefano D'Arrigo, et al.
European Journal of Neurology|June 20, 2020
Deciphering the natural history of SCA7 in childrenM G Bah, D Rodriguez, C Cazeneuve, et al.
Orphanet Journal of Rare Diseases|February 15, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsVeerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, et al.
Journal of Medical Genetics|October 22, 2021
<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.
European Journal of Human Genetics : EJHG|June 30, 2016
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsyGabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, et al.
Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.
Pageof 28

Showing results (261-270 of 276) with videos related to

Sort By:
Pageof 28
The Lancet. Oncology|July 19, 2024
Celiac plexus radiosurgery for pain management in advanced cancer: a multicentre, single-arm, phase 2 trialYaacov R Lawrence, Marcin Miszczyk, Laura A Dawson, et al.
Epilepsy & Behavior : E&B|December 16, 2021
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathyClaire Bar, Delphine Breuillard, Mathieu Kuchenbuch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disordersHalie J May, Jaehoon Jeong, Anya Revah-Politi, et al.
EMBO Molecular Medicine|December 19, 2025
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delaySøren H Hough, Satpal S Jhujh, Samah W Awwad, et al.
American Journal of Human Genetics|October 3, 2017
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal DefectsRoberta De Mori, Marta Romani, Stefano D'Arrigo, et al.
European Journal of Neurology|June 20, 2020
Deciphering the natural history of SCA7 in childrenM G Bah, D Rodriguez, C Cazeneuve, et al.
Orphanet Journal of Rare Diseases|February 15, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsVeerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, et al.
Journal of Medical Genetics|October 22, 2021
<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.
European Journal of Human Genetics : EJHG|June 30, 2016
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsyGabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, et al.
Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.
Pageof 28