Miguel Jorge Santos O. Ferreira Leao
AuthID: R-002-R0W
2
TITLE: A case of germ-line mosaicism in Tuberous Sclerosis Full Text
AUTHORS: Ana Grangeia ; Joana Marques, CJ ; Susana Fernandes; Miguel Leao;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Ana Grangeia ; Joana Marques, CJ ; Susana Fernandes; Miguel Leao;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: 
WOS
WOS3
TITLE: Identification of Copy Number Variation by Array-CGH in Portuguese Children and Adolescents Diagnosed with Autism Spectrum Disorders
AUTHORS: Monteiro, S; Pinto, J; Coelho, AM ; Leao, M; Doria, S ;
PUBLISHED: 2019, SOURCE: NEUROPEDIATRICS, VOLUME: 50, ISSUE: 6
AUTHORS: Monteiro, S; Pinto, J; Coelho, AM ; Leao, M; Doria, S ;
PUBLISHED: 2019, SOURCE: NEUROPEDIATRICS, VOLUME: 50, ISSUE: 6
4
TITLE: Diagnostic yield of Next-Generation Sequencing (NGS) technology applied to Neurological disorders Full Text
AUTHORS: Marques Matos, C; Leao, M;
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
AUTHORS: Marques Matos, C; Leao, M;
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
INDEXED IN: WOS
WOS5
TITLE: Genetic investigation in hereditary spastic paraplegias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João [Investigação genética nas paraparésias espásticas hereditárias: Recomendações do Grupo de Neurogenética do Centro Hospitalar São João]
AUTHORS: Braz, L ; França, S; Guimarães, J; Leão, M;
PUBLISHED: 2018, SOURCE: Sinapse, VOLUME: 18, ISSUE: 1
AUTHORS: Braz, L ; França, S; Guimarães, J; Leão, M;
PUBLISHED: 2018, SOURCE: Sinapse, VOLUME: 18, ISSUE: 1
INDEXED IN: 
Scopus
Scopus6
TITLE: Complex congenital heart disease with absent pulmonary arteries
AUTHORS: Jorge Abreu Ferreira; Sandra Pereira; Joao Sarmento; Sofia Granja; Antonio J Madureira; Maria Joao Baptista;
PUBLISHED: 2018, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 37, ISSUE: 11
AUTHORS: Jorge Abreu Ferreira; Sandra Pereira; Joao Sarmento; Sofia Granja; Antonio J Madureira; Maria Joao Baptista;
PUBLISHED: 2018, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 37, ISSUE: 11
INDEXED IN: WOS
WOS7
TITLE: Brain Herniation into the Dural Venous Sinus Full Text
AUTHORS: Luisa Sampaio; Jose Manuel D Dias da Costa; Ruben Rocha; Miguel Leao;
PUBLISHED: 2016, SOURCE: JOURNAL OF PEDIATRICS, VOLUME: 174
AUTHORS: Luisa Sampaio; Jose Manuel D Dias da Costa; Ruben Rocha; Miguel Leao;
PUBLISHED: 2016, SOURCE: JOURNAL OF PEDIATRICS, VOLUME: 174
INDEXED IN: WOS
WOS8
TITLE: BSCL2 N88S MUTATION IN A PORTUGUESE PATIENT WITH THE SILVER SYNDROME Full Text
AUTHORS: Ana Monteiro; Raquel Real; Goreti Nadais; Fernando Silveira; Miguel Leao;
PUBLISHED: 2015, SOURCE: MUSCLE & NERVE, VOLUME: 51, ISSUE: 3
AUTHORS: Ana Monteiro; Raquel Real; Goreti Nadais; Fernando Silveira; Miguel Leao;
PUBLISHED: 2015, SOURCE: MUSCLE & NERVE, VOLUME: 51, ISSUE: 3
9
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
10
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
