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Clinical Genetics|November 4, 2016
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathyB Pode-Shakked, H Barash, L Ziv, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 7, 2015
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failureSurabhi Mulchandani, Elizabeth J Bhoj, Minjie Luo, et al.
Pharmaceuticals (Basel, Switzerland)|October 29, 2025
Cannabigerol Modulates Cannabinoid Receptor Type 2 Expression in the Spinal Dorsal Horn and Attenuates Neuropathic Pain ModelsBismarck Rezende, Gabriel Gripp Fernandes, Vitória Macario de Simas Gonçalves, et al.
Gene|March 4, 2023
Inflammasome genes polymorphisms are associated with progression to mechanical ventilation and death in a cohort of hospitalized COVID-19 patients in a reference hospital in Rio de Janeiro, BrazilMilena Neira-Goulart, Nathalia Beatriz Ramos de Sá, Marcelo Ribeiro-Alves, et al.
American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.
Nature Genetics|March 3, 2015
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesinKosuke Izumi, Ryuichiro Nakato, Zhe Zhang, et al.
European Journal of Human Genetics : EJHG|February 17, 2021
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathiesKaren W Gripp, Sarah F Smithson, Ingrid J Scurr, et al.
Frontiers in Immunology|April 28, 2023
SARS-CoV-2 Spike protein alters microglial purinergic signalingVinícius Santos Alves, Stephanie Alexia Cristina Silva Santos, Raíssa Leite-Aguiar, et al.
Metabolites|August 28, 2024
Cardiometabolic and Cellular Adaptations to Multiple vs. Single Daily HIIT Sessions in Wistar Rats: Impact of Short-Term DetrainingLiliane Vanessa Costa-Pereira, Bruno Ferreira Mendes, Caíque Olegário Diniz Magalhães, et al.
International Journal of Molecular Sciences|May 4, 2026
Vascular Immune Crosstalk in COVID-19: RAAS Biomarker Signature Linking Angiotensin II to Respiratory Compromise and Soluble ACE2 to IL-13 and FGF, Revealing Therapeutic TargetsThais Freitas Barreto Fernandes, Itauá Leston Araujo, Pedro Henrique Oliveira Vianna, et al.
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