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Human Mutation|July 29, 2020
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelinesSean V Tavtigian, Steven M Harrison, Kenneth M Boucher, et al.Human Mutation|February 17, 2015
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularityDominik G Grimm, Chloé-Agathe Azencott, Fabian Aicheler, et al.Human Mutation|February 18, 2015
On human disease-causing amino acid variants: statistical study of sequence and structural patternsMarharyta Petukh, Tugba G Kucukkal, Emil AlexovHuman Mutation|March 31, 2015
LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature AgingTero-Pekka Alastalo, Gun West, Song-Ping Li, et al.Human Mutation|June 30, 2020
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation abilityGodelieve Morel, Céline Duhamel, Simon Boussion, et al.Human Mutation|July 6, 2020
Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuriaInsun Park, Helena Hůlková, Jakub Krijt, et al.Human Mutation|April 14, 2015
A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and ArthrogryposisKyota Aoyagi, Elsa Rossignol, Fadi F Hamdan, et al.Human Mutation|April 13, 2021
CNGB1-related rod-cone dystrophy: A mutation review and updateMarco Nassisi, Vasily M Smirnov, Cyntia Solis Hernandez, et al.Human Mutation|July 5, 2001
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian familiesM L Mostacciuolo, E Righetti, M Zortea, et al.Pageof 574