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S Pais

Showing results (81-90 of 110) with videos related to

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Non-Coding RNA Research|June 18, 2025
Computational discovery of conserved RNA structures and functional characterization of a structured lncRNA in <i>Leishmania braziliensis</i>Caroline R Espada, Christian Anthon, Rubens D M Magalhães, et al.
Nutrients|October 16, 2024
Evaluation of the Effects of Diet-Induced Obesity in Zebrafish (<i>Danio rerio</i>): A Comparative StudyMaria Gabriela F R Silva, Ana Carolina Luchiari, Isaiane Medeiros, et al.
Molecular Genetics & Genomic Medicine|September 24, 2020
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature reviewNatalie B Tan, Rachel Stapleton, Zornitza Stark, et al.
American Journal of Human Genetics|September 29, 2021
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomaliesGabrielle Lemire, Yoko A Ito, Aren E Marshall, et al.
Human Mutation|March 10, 2022
seqr: A web-based analysis and collaboration tool for rare disease genomicsLynn S Pais, Hana Snow, Ben Weisburd, et al.
Journal of Medical Genetics|November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, et al.
American Journal of Medical Genetics. Part A|May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorderCaroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
Nature Medicine|January 19, 2023
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal deathAlicia B Byrne, Peer Arts, Thuong T Ha, et al.
Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, et al.
Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
Pageof 11

Showing results (81-90 of 110) with videos related to

Sort By:
Pageof 11
Non-Coding RNA Research|June 18, 2025
Computational discovery of conserved RNA structures and functional characterization of a structured lncRNA in <i>Leishmania braziliensis</i>Caroline R Espada, Christian Anthon, Rubens D M Magalhães, et al.
Nutrients|October 16, 2024
Evaluation of the Effects of Diet-Induced Obesity in Zebrafish (<i>Danio rerio</i>): A Comparative StudyMaria Gabriela F R Silva, Ana Carolina Luchiari, Isaiane Medeiros, et al.
Molecular Genetics & Genomic Medicine|September 24, 2020
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature reviewNatalie B Tan, Rachel Stapleton, Zornitza Stark, et al.
American Journal of Human Genetics|September 29, 2021
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomaliesGabrielle Lemire, Yoko A Ito, Aren E Marshall, et al.
Human Mutation|March 10, 2022
seqr: A web-based analysis and collaboration tool for rare disease genomicsLynn S Pais, Hana Snow, Ben Weisburd, et al.
Journal of Medical Genetics|November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, et al.
American Journal of Medical Genetics. Part A|May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorderCaroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
Nature Medicine|January 19, 2023
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal deathAlicia B Byrne, Peer Arts, Thuong T Ha, et al.
Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, et al.
Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
Pageof 11