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Showing results (481-490 of 503) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|September 5, 2025
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) DiseaseD I Ritter, C Badduke, K Doonanco, et al.
Nature Cell Biology|November 24, 2015
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndromeNils J Lambacher, Ange-Line Bruel, Teunis J P van Dam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2026
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel-Lindau (VHL) DiseaseDeborah I Ritter, Chansonette Badduke, Kurston Doonanco, et al.
European Urology Focus|July 1, 2026
A Core Outcome Set for Localized Renal Cell Cancer (L-RCC-COS)Ailbhe Lawlor, Mieke Van Hemelrijck, Charlotte Moss, et al.
Clinical Genetics|August 2, 2019
Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patientsYasser Salama, Saleh Albanyan, Marta Szybowska, et al.
Human Molecular Genetics|December 12, 2017
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transportVerity L Hartill, Glenn van de Hoek, Mitali P Patel, et al.
Cell Reports|October 1, 2025
A hexamer tandem repeat RNA embedded within an SVA retrotransposon drives R-loop formation and neurodegenerationLaura D'Ignazio, Alan P R Lorenzetti, Ellen B Penney, et al.
Cell Reports|June 20, 2025
A hexamer tandem repeat RNA embedded within an SVA retrotransposon drives R-loop formation and neurodegenerationLaura D'Ignazio, Alan P R Lorenzetti, Ellen B Penney, et al.
American Journal of Human Genetics|January 6, 2015
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingMarkus Schueler, Daniela A Braun, Gayathri Chandrasekar, et al.
Journal of Medical Genetics|October 23, 2015
MKS1 regulates ciliary INPP5E levels in Joubert syndromeGisela G Slaats, Christine R Isabella, Hester Y Kroes, et al.
Pageof 51

Showing results (481-490 of 503) with videos related to

Sort By:
Pageof 51
Medrxiv : the Preprint Server for Health Sciences|September 5, 2025
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) DiseaseD I Ritter, C Badduke, K Doonanco, et al.
Nature Cell Biology|November 24, 2015
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndromeNils J Lambacher, Ange-Line Bruel, Teunis J P van Dam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2026
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel-Lindau (VHL) DiseaseDeborah I Ritter, Chansonette Badduke, Kurston Doonanco, et al.
European Urology Focus|July 1, 2026
A Core Outcome Set for Localized Renal Cell Cancer (L-RCC-COS)Ailbhe Lawlor, Mieke Van Hemelrijck, Charlotte Moss, et al.
Clinical Genetics|August 2, 2019
Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patientsYasser Salama, Saleh Albanyan, Marta Szybowska, et al.
Human Molecular Genetics|December 12, 2017
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transportVerity L Hartill, Glenn van de Hoek, Mitali P Patel, et al.
Cell Reports|October 1, 2025
A hexamer tandem repeat RNA embedded within an SVA retrotransposon drives R-loop formation and neurodegenerationLaura D'Ignazio, Alan P R Lorenzetti, Ellen B Penney, et al.
Cell Reports|June 20, 2025
A hexamer tandem repeat RNA embedded within an SVA retrotransposon drives R-loop formation and neurodegenerationLaura D'Ignazio, Alan P R Lorenzetti, Ellen B Penney, et al.
American Journal of Human Genetics|January 6, 2015
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingMarkus Schueler, Daniela A Braun, Gayathri Chandrasekar, et al.
Journal of Medical Genetics|October 23, 2015
MKS1 regulates ciliary INPP5E levels in Joubert syndromeGisela G Slaats, Christine R Isabella, Hester Y Kroes, et al.
Pageof 51