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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD geneVirginie G Peter, Mathieu Quinodoz, Jorge Pinto-Basto, et al.
Journal of the International AIDS Society|December 15, 2018
Mortality and losses to follow-up among adolescents living with HIV in the IeDEA global cohort collaborationAzar Kariminia, Matthew Law, Mary-Ann Davies, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 9, 2010
Osteopathia striata with cranial sclerosis owing to WTX gene defectBram Perdu, Fenna de Freitas, Suzanne G M Frints, et al.
Genetics in Medicine Open|December 13, 2024
Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testingEmir Zonic, Mariana Ferreira, Luba M Pardo, et al.
Pathogens (Basel, Switzerland)|August 28, 2025
Anti-SARS-CoV-2 Antibodies in Urine of Individuals Vaccinated with Janssen AD26.COV2.S COVID-19 VaccineMarina F N Melo, Rômulo C D Lira, Raquel S B Câmara, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|April 4, 2017
Cytomegalovirus Urinary Shedding in HIV-infected Pregnant Women and Congenital Cytomegalovirus InfectionKristina Adachi, Jiahong Xu, Bonnie Ank, et al.
The Pediatric Infectious Disease Journal|March 6, 2015
Syphilis in HIV-infected mothers and infants: results from the NICHD/HPTN 040 studyNava Yeganeh, Heather D Watts, Margaret Camarca, et al.
American Journal of Medical Genetics. Part A|April 13, 2021
Heterozygous variants in SPTBN1 cause intellectual disability and autismJill A Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, et al.
BMJ Global Health|September 24, 2020
Setting the standard: multidisciplinary hallmarks for structural, equitable and tracked antibiotic policyClaas Kirchhelle, Paul Atkinson, Alex Broom, et al.
European Journal of Human Genetics : EJHG|July 11, 2023
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 yearsPilar Guatibonza Moreno, Luba M Pardo, Catarina Pereira, et al.
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