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Repositório Institucional da UFMG
Browsing by Author Fernando Kok
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Showing results 1 to 3 of 3
Issue Date
Title
Author(s)
Type
2022
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy
Aviel Ragamin
;
Carolina C. Gomes
;
Karen Bindels-de Heus
;
Renata Sandoval
;
Angelia V Bassenden
;
Luciano Dib
;
Fernando Kok
;
Julieta Alves
;
Irene Mathijssen
;
Evita Medici-Van den Herik
;
Robert Eveleigh
;
Tenzin Gayden
;
Bas Pullens
;
Albert Berghuis
;
Marjon van Slegtenhorst
;
Martina Wilke
;
Nada Jabado
;
Grazia Maria Simonetta Mancini
;
Ricardo Santiago Gomez
Artigo de Periódico
2018
A novel complex neurological phenotype due to a homozygous mutation in FDX2
Juliana Gurgel Giannetti
;
Bruno Della Ripa de Assis
;
Mara Dell Ospedale Ribeiro
;
Isabella Barcelos
;
Katiane Sayão Souza
;
Fernanda Monti
;
Uirá Souto Melo
;
Simone Amorim
;
Leonardo Silva
;
Lúcia Inês Macedo-souza
;
Angela Vianna Morgante
;
David Lynch
;
Michio Hirano
;
Marjo Van Der Knaap
;
Roland Lill
;
Mariz Vainzof
;
Anders Oldfors
;
Henry Houlden
;
Fernando Kok
;
Anderson Rodrigues Brandão de Paiva
;
Leandro Tavares Lucato
;
Guilherme Yamamoto
;
Christer Thomsen
;
Somsuvro Basu
;
Fernando Freua
;
Alexandre Varella Giannetti
Artigo de Periódico
26-Feb-2010
Triagem neonatal para deficiencia de biotinidase no estado de Minas Gerais
Marilis Tissot Lara
Dissertação de Mestrado