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14 research outputs found
Diagnóstico genético e associação genótipo-fenótipo de 35 indivíduos brasileiros com atividade reduzida de biotinidase
Author
Borsatto Taciane
Donis Karina Carvalho
+6 more
Medeiros Paula Frassinetti Vasconcelos de
Randon Dévora Natalia
Ribeiro Erlane Marques
Schwartz Ida Vanessa Doederlein
Souza Carolina Fischinger Moura de
Sperb Fernanda
Publication venue
Publication date
01/01/2018
Field of study
Get PDF
Lume 5.8
Quinze anos de experiência do centro de referencia para tratamento de osteogênese imperfeita no Hospital de Clinicas de Porto Alegre
Author
Brizola Evelise Silva
Felix Temis Maria
+6 more
Girelli Carla Desengrini
Medeiros Paula Frassinetti Vasconcelos de
Perrone Solanger Graciana Paulão
Pinheiro Bruna de Souza
Souza Liliane Todeschini de
Zambrano Marina Bauer
Publication venue
Publication date
01/01/2018
Field of study
Get PDF
Lume 5.8
Caracterização de um possível cluster geográfico da Mucopolissacaridose IVA no Brasil
Author
Bochernitsan Aline Nemetz
Couto Rowena Rubim Silva do
+8 more
Facchin Ana Carolina Brusius
Giugliani Roberto
Gondim Catia Eufrazino
Kubaski Francyne
Leistner-Segal Sandra
Medeiros Paula Frassinetti Vasconcelos de
Santos Simone Lopes
Trapp Franciele
Publication venue
Publication date
01/01/2016
Field of study
Get PDF
Lume 5.8
Potential cluster of MPS IV A in Northeast Brazil
Author
Facchin Ana Carolina Brusius
Giugliani Roberto
+4 more
Gondim Cátia Sueli Eufrazino
Kubaski Francyne
Leistner-Segal Sandra
Medeiros Paula Frassinetti Vasconcelos de
Publication venue
Publication date
01/01/2012
Field of study
No full text
Lume 5.8
Diagnóstico genético e associação genótipo-fenótipo de 35 indivíduos brasileiros com atividade reduzida de biotinidase
Author
Borsatto Taciane
Donis Karina Carvalho
+6 more
Medeiros Paula Frassinetti Vasconcelos de
Randon Dévora Natalia
Ribeiro Erlane Marques
Schwartz Ida Vanessa Doederlein
Souza Carolina Fischinger Moura de
Sperb Fernanda
Publication venue
Publication date
01/01/2018
Field of study
Get PDF
Lume 5.8
Quinze anos de experiência do centro de referencia para tratamento de osteogênese imperfeita no Hospital de Clinicas de Porto Alegre
Author
Brizola Evelise Silva
Felix Temis Maria
+6 more
Girelli Carla Desengrini
Medeiros Paula Frassinetti Vasconcelos de
Perrone Solanger Graciana Paulão
Pinheiro Bruna de Souza
Souza Liliane Todeschini de
Zambrano Marina Bauer
Publication venue
Publication date
01/01/2018
Field of study
Get PDF
Lume 5.8
XPC gene founder splicing site mutation is common in Brazilian xeroderma pigmentosum patients
Author
Achatz Maria Isabel Alves de Souza Waddington
Medeiros Paula Frassinetti Vasconcelos de
+5 more
Prolla Patrícia Ashton
Rocha R. M.
Rogatto Silvia Regina
Santiago K. M.
Vairo Filippo Pinto e
Publication venue
Publication date
01/01/2012
Field of study
No full text
Lume 5.8
Deficiência de biotinidase : avaliação de aspectos clínicos e moleculares em uma amostra de pacientes brasileiros
Author
Borsatto Taciane
Carvalho Francisca Ligia Cirilo
+7 more
Leistner-Segal Sandra
Lourenço Charles Marques
Luca Gisele Rozone de
Medeiros Paula Frassinetti Vasconcelos de
Pinto Louise Lapagesse de Camargo
Souza Carolina Fischinger Moura de
Sperb Fernanda
Publication venue
Publication date
01/01/2013
Field of study
Get PDF
Lume 5.8
RCAAP - Repositório Científico de Acesso Aberto de Portugal
Caracterização de um possível cluster geográfico da Mucopolissacaridose IVA no Brasil
Author
Bochernitsan Aline Nemetz
Couto Rowena Rubim Silva do
+8 more
Facchin Ana Carolina Brusius
Giugliani Roberto
Gondim Catia Eufrazino
Kubaski Francyne
Leistner-Segal Sandra
Medeiros Paula Frassinetti Vasconcelos de
Santos Simone Lopes
Trapp Franciele
Publication venue
Publication date
01/01/2016
Field of study
Get PDF
Lume 5.8
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