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Laure Raymond

Showing results (41-50 of 46) with videos related to

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Journal of Medical Genetics|September 22, 2022
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 casesQuentin Testard, Xavier Vanhoye, Kevin Yauy, et al.
Nephron|November 27, 2025
Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like PhenotypeLaura R Claus, Rozemarijn Snoek, Siebren Faber, et al.
European Journal of Human Genetics : EJHG|September 8, 2016
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in SudanLiena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, et al.
Science (New York, N.Y.)|February 1, 2014
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersGaia Novarino, Ali G Fenstermaker, Maha S Zaki, et al.
Journal of Medical Genetics|June 7, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspectiveSilvestre Cuinat, Chloé Quélin, Claire Effray, et al.
Science Advances|March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.
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Showing results (41-50 of 46) with videos related to

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Pageof 5
You have reached the last page of results.This site can display upto 46 results.
Journal of Medical Genetics|September 22, 2022
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 casesQuentin Testard, Xavier Vanhoye, Kevin Yauy, et al.
Nephron|November 27, 2025
Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like PhenotypeLaura R Claus, Rozemarijn Snoek, Siebren Faber, et al.
European Journal of Human Genetics : EJHG|September 8, 2016
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in SudanLiena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, et al.
Science (New York, N.Y.)|February 1, 2014
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersGaia Novarino, Ali G Fenstermaker, Maha S Zaki, et al.
Journal of Medical Genetics|June 7, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspectiveSilvestre Cuinat, Chloé Quélin, Claire Effray, et al.
Science Advances|March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.
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