Miguel Jorge Santos O. Ferreira Leao
AuthID: R-002-R0W
11
TITLE: Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa Full Text
AUTHORS: Thatjana Gardeitchik; Miski Mohamed; Bjoern Fischer; Martin Lammens; Dirk Lefeber; Baiba Lace; Michael Parker; Ki Joong Kim; Bing C Lim; Johannes Haeberle; Livia Garavelli; Sujatha Jagadeesh; Ariana Kariminejad; Deanna Guerra; Michel Leao; Riikka Keski Filppula; Han Brunner; Leo Nijtmans; Bert van den Heuvel; Ron Wevers; ...More
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 7
AUTHORS: Thatjana Gardeitchik; Miski Mohamed; Bjoern Fischer; Martin Lammens; Dirk Lefeber; Baiba Lace; Michael Parker; Ki Joong Kim; Bing C Lim; Johannes Haeberle; Livia Garavelli; Sujatha Jagadeesh; Ariana Kariminejad; Deanna Guerra; Michel Leao; Riikka Keski Filppula; Han Brunner; Leo Nijtmans; Bert van den Heuvel; Ron Wevers; ...More
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 7
12
TITLE: Clinodactyly and syndactyly - diagnostic clues for Andersen-Tawil syndrome Full Text
AUTHORS: Carlos Andrade; Joana Meireles; Miguel Leao; Fernando Silveira;
PUBLISHED: 2014, SOURCE: ARQUIVOS DE NEURO-PSIQUIATRIA, VOLUME: 72, ISSUE: 11
AUTHORS: Carlos Andrade; Joana Meireles; Miguel Leao; Fernando Silveira;
PUBLISHED: 2014, SOURCE: ARQUIVOS DE NEURO-PSIQUIATRIA, VOLUME: 72, ISSUE: 11
13
TITLE: Expanding the phenotype of IFAP/BRESECK syndrome: A new case with severe hypogammaglobulinemia
AUTHORS: Susana Corujeira; Sofia Agueda; Georgina Monteiro; Aurea Canelhas; Mafalda Sampaio; Ruben Rocha; Miguel Leao;
PUBLISHED: 2013, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 56, ISSUE: 11
AUTHORS: Susana Corujeira; Sofia Agueda; Georgina Monteiro; Aurea Canelhas; Mafalda Sampaio; Ruben Rocha; Miguel Leao;
PUBLISHED: 2013, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 56, ISSUE: 11
14
TITLE: Syndrome of Transient Headache and Neurologic Deficits With Cerebrospinal Fluid Lymphocytosis (HaNDL): A Pediatric Case Report
AUTHORS: Daniel Goncalves ; Joana Meireles; Ruben Rocha; Mafalda Sampaio; Miguel Leao;
PUBLISHED: 2013, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 28, ISSUE: 12
AUTHORS: Daniel Goncalves ; Joana Meireles; Ruben Rocha; Mafalda Sampaio; Miguel Leao;
PUBLISHED: 2013, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 28, ISSUE: 12
15
TITLE: Comprehensive Genetic Analysis and Structural Characterization of CYP21A2 Mutations in CAH Patients
AUTHORS: Carvalho, B; Pereira, M; Marques, CJ ; Carvalho, D ; Leao, M; Oliveira, JP ; Barros, A ; Carvalho, F ;
PUBLISHED: 2012, SOURCE: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, VOLUME: 120, ISSUE: 9
AUTHORS: Carvalho, B; Pereira, M; Marques, CJ ; Carvalho, D ; Leao, M; Oliveira, JP ; Barros, A ; Carvalho, F ;
PUBLISHED: 2012, SOURCE: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, VOLUME: 120, ISSUE: 9
16
TITLE: Ornithine transcarbamylase deficiency: Phenotype and genotype characterization in 25 patients - Experience from a Portuguese tertiary center Full Text
AUTHORS: Teles E Leao; Rodrigues, E; Soares, S; Trindade, E; Vilarinho, L; Cardoso, ML; Azevedo, L ;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
AUTHORS: Teles E Leao; Rodrigues, E; Soares, S; Trindade, E; Vilarinho, L; Cardoso, ML; Azevedo, L ;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: 
WOS
WOS17
TITLE: Modified protocol of desensitisation in platinum salts allergy
AUTHORS: Damasceno, M; Moreira Silva, JP; Rodrigues, J; Miranda, M; Vaz, M; Ferreira, JS;
PUBLISHED: 1998, SOURCE: 17th International Cancer Congress of the International-Union-Against-Cancer in 17TH INTERNATIONAL CANCER CONGRESS, VOL 1 AND 2
AUTHORS: Damasceno, M; Moreira Silva, JP; Rodrigues, J; Miranda, M; Vaz, M; Ferreira, JS;
PUBLISHED: 1998, SOURCE: 17th International Cancer Congress of the International-Union-Against-Cancer in 17TH INTERNATIONAL CANCER CONGRESS, VOL 1 AND 2
INDEXED IN: WOS
WOS18
TITLE: Orofaciodigital syndrome type I in a patient with severe CNS defects Full Text
AUTHORS: Miguel J Leão; Maria L Ribeiro-Silva;
PUBLISHED: 1995, SOURCE: Pediatric Neurology, VOLUME: 13, ISSUE: 3
AUTHORS: Miguel J Leão; Maria L Ribeiro-Silva;
PUBLISHED: 1995, SOURCE: Pediatric Neurology, VOLUME: 13, ISSUE: 3
INDEXED IN: 
CrossRef
CrossRef19
TITLE: Functional assessment of the autonomic nervous system in rheumatoid arthritis [Avaliação funcional do sistema nervoso autónomo na artrite reumatóide.]
AUTHORS: Soares, JD; Ferreira, M; Povoa, P; da Silva, JA; Santos, MJ; Carlos, AG;
PUBLISHED: 1993, SOURCE: Acta medica portuguesa, VOLUME: 6, ISSUE: 6
AUTHORS: Soares, JD; Ferreira, M; Povoa, P; da Silva, JA; Santos, MJ; Carlos, AG;
PUBLISHED: 1993, SOURCE: Acta medica portuguesa, VOLUME: 6, ISSUE: 6
INDEXED IN: 
Scopus
Scopus20
TITLE: Posterior urethral valves with polydactyly: case report of a six year old boy.
AUTHORS: Oliveira, JP ; Jardim, H; Leao, M; Vasconcelos, MJ ; Barreiros, M;
PUBLISHED: 1989, SOURCE: Progress in clinical and biological research, VOLUME: 305
AUTHORS: Oliveira, JP ; Jardim, H; Leao, M; Vasconcelos, MJ ; Barreiros, M;
PUBLISHED: 1989, SOURCE: Progress in clinical and biological research, VOLUME: 305
INDEXED IN: Scopus
Scopus