Results 111 to 120 of about 9,969 (132)

First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser) [PDF]

Biomedica
Cerón SM, Pérez DA, Montaño JH, Acosta MA.   +3 more
europepmc   +1 more source

Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency [PDF]

Biomedica
Gutiérrez-Hincapié S, Orrego JC, Franco JL, Trujillo-Vargas CM.   +3 more
europepmc   +1 more source

[Autoimmune Regulatory Gene (AIRE) and Development of Autoimmune Thyroiditis in Down Syndrome]. [PDF]

Rev Med Inst Mex Seguro Soc
Moran-Espinosa MC, Granados-Riverón JT, Benítez-Arvizu G, Sosa-Delgado SM, Gómez-Mejía MA, Diaz-Garcia H.   +5 more
europepmc   +1 more source

Nephrocalcinosis: unveiling renal tubulopathies in the genomic era. [PDF]

J Bras Nefrol
Ayoub EAM, Vaisbich MH, Rocha DR, Cerqueira BP, Matos ACC, Pietrobom IG, Heilberg IP.   +6 more
europepmc   +1 more source

[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients]. [PDF]

Rev Neurol
Oliveros-Acuña N, Tafur-Gómez N, Ortiz-Corredor F, Castellar-Leones S, Rojas-García W, Correa-Arrieta C.   +5 more
europepmc   +1 more source