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Showing results (361-370 of 387) with videos related to

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Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Human Mutation|September 6, 2012
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutionsBryony A Thompson, Marc S Greenblatt, Maxime P Vallee, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|March 11, 2026
Integrating real-world data with gold-standard longitudinal clinical and genomic data to advance precision medicine for the Alzheimer's Disease Research Center Program and beyond: a proof-of-concept data platformSarah Biber, Jessica E Culhane, Maria G Prado, et al.
Research Square|August 14, 2023
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs)Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, et al.
Lancet (London, England)|July 3, 2018
On the road to universal health care in Indonesia, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016Nafsiah Mboi, Indra Murty Surbakti, Indang Trihandini, et al.
Human Mutation|June 27, 2019
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancerAlin Voskanian, Panagiotis Katsonis, Olivier Lichtarge, et al.
Human Genetics|January 9, 2025
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, et al.
Human Mutation|July 20, 2019
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseasesLaura Kasak, Jesse M Hunter, Rupa Udani, et al.
Human Mutation|July 26, 2019
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016Wyatt T Clark, Laura Kasak, Constantina Bakolitsa, et al.
Lancet (London, England)|July 24, 2017
Population health and regional variations of disease burden in Japan, 1990-2015: a systematic subnational analysis for the Global Burden of Disease Study 2015Shuhei Nomura, Haruka Sakamoto, Scott Glenn, et al.
Pageof 39

Showing results (361-370 of 387) with videos related to

Sort By:
Pageof 39
Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Human Mutation|September 6, 2012
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutionsBryony A Thompson, Marc S Greenblatt, Maxime P Vallee, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|March 11, 2026
Integrating real-world data with gold-standard longitudinal clinical and genomic data to advance precision medicine for the Alzheimer's Disease Research Center Program and beyond: a proof-of-concept data platformSarah Biber, Jessica E Culhane, Maria G Prado, et al.
Research Square|August 14, 2023
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs)Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, et al.
Lancet (London, England)|July 3, 2018
On the road to universal health care in Indonesia, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016Nafsiah Mboi, Indra Murty Surbakti, Indang Trihandini, et al.
Human Mutation|June 27, 2019
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancerAlin Voskanian, Panagiotis Katsonis, Olivier Lichtarge, et al.
Human Genetics|January 9, 2025
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, et al.
Human Mutation|July 20, 2019
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseasesLaura Kasak, Jesse M Hunter, Rupa Udani, et al.
Human Mutation|July 26, 2019
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016Wyatt T Clark, Laura Kasak, Constantina Bakolitsa, et al.
Lancet (London, England)|July 24, 2017
Population health and regional variations of disease burden in Japan, 1990-2015: a systematic subnational analysis for the Global Burden of Disease Study 2015Shuhei Nomura, Haruka Sakamoto, Scott Glenn, et al.
Pageof 39