Miguel Jorge Santos O. Ferreira Leao
AuthID: R-002-R0W
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TITLE: Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy
AUTHORS: Mafalda Sampaio; Ruben Rocha; Saskia Biskup; Miguel Leao;
PUBLISHED: 2015, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 30, ISSUE: 5
AUTHORS: Mafalda Sampaio; Ruben Rocha; Saskia Biskup; Miguel Leao;
PUBLISHED: 2015, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 30, ISSUE: 5
12
TITLE: Intellectual disability and overgrowthA new case of 19p13.13 microdeletion syndrome with digital abnormalities Full Text
AUTHORS: Rita Jorge; Carmen Silva; Sofia Agueda; Sofia Doria ; Miguel Leao;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167, ISSUE: 11
AUTHORS: Rita Jorge; Carmen Silva; Sofia Agueda; Sofia Doria ; Miguel Leao;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167, ISSUE: 11
13
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
14
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
15
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
16
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
17
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
18
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
WOS19
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
WOS20
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: 
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