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American Journal of Medical Genetics. Part A|December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyQueenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
Molecular Genetics and Metabolism|May 28, 2014
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityDavid R Adams, Hongjie Yuan, Todd Holyoak, et al.
Plos One|January 27, 2023
Detection of SARS-CoV-2 infection by saliva and nasopharyngeal sampling in frontline healthcare workers: An observational cohort studyNaomi F Walker, Rachel L Byrne, Ashleigh Howard, et al.
Molecular Genetics and Metabolism|May 7, 2015
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchorsChristina Lam, Gretchen A Golas, Mariska Davids, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceKelly Schoch, Cecilia Esteves, Anna Bican, et al.
American Journal of Human Genetics|June 4, 2019
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal AcidificationElena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, et al.
The Journal of Infection|December 15, 2021
Twelve lateral flow immunoassays (LFAs) to detect SARS-CoV-2 antibodiesSophie I Owen, Christopher T Williams, Gala Garrod, et al.
International Immunopharmacology|December 2, 2008
In vitro and in vivo characterisation of anti-murine IL-13 antibodies recognising distinct functional epitopesL M Berry, R Adams, M Airey, et al.
American Journal of Human Genetics|July 23, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
Physical Review Letters|June 1, 2001
Energy loss of fast quarks in nucleiM B Johnson, B Z Kopeliovich, I K Potashnikova, et al.
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