Results 151 to 160 of about 2,349,990 (309)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Reply to "comment on: Socioeconomic inequities in prostate cancer care: private versus public treatment settings pose a significant impact on overall survival". [PDF]

Einstein (Sao Paulo)
Costa ACS, Korkes F, Rinck Junior JA, Cunha FTS, Barros LHC, Zequi SC, Formiga MNDC.   +6 more
europepmc   +1 more source

Vol. 26, NO 48 2013 - BRASIL/BRAZIL

, 2017
Revista, BRASIL/BRAZIL
core  

Vol. 06, NO 10 1993 - BRASIL/BRAZIL

, 2017
revista, BRASIL/BRAZIL
core  

Clinical Patterns of Osteoarticular, Bone Marrow and Urogenital Paracoccidioidomycosis. [PDF]

Mycoses
Kruschewsky WLL, Stricagnolo MC, Vidal MSM, Benard G, de Oliveira VF, Cocio TA, Magri ASGK, Magri MMC.   +7 more
europepmc   +1 more source

Vol. 26, NO 47 2013 - BRASIL/BRAZIL

, 2017
revista, BRASIL/BRAZIL
core  

The dispersion of Lutzomyia longipalpis in urban areas

Revista da Sociedade Brasileira de Medicina Tropical, 2013
Reginaldo Pecanha Brazil
doaj   +1 more source

Implementation of AESOP early-warning system for respiratory disease: a pilot and validation study using routinely collected data in Amazonas, Brazil. [PDF]

Lancet Reg Health Am
Marcilio I, Ramos PIP, Florentino PVT, Dos Santos ASM, de Araújo Oliveira V, Carreiro RP, Lima Danielli RC, Zany Dos Reis A, Ramos TCA, Bartholomay P, Coradi de Freitas DR, Martins Romano AP, Nunes Dos Santos C, Nienov OH, Gaete RAC, Oliveira JF, Cunha GG, Cunha MCSL, Brandão de Miranda R, Boaventura VS, Andrade RFS, Landau L, Penna GO, Barral-Netto M, ÆSOP Collaborating Team.   +24 more
europepmc   +1 more source

Vol. 13, NO 24 2000 - BRASIL/BRAZIL

, 2017
revista, BRASIL/BRAZIL
core  

A Conversation with Alexandra Navrotsky

ACS Central Science
Rachel Brazil
doaj   +1 more source