Maria do Rosário Neto dos Santos


AuthID: R-00H-H5E

Publications Awaiting Confirmation

21
TITLE: Extending genetic analysis of hereditary myopathies beyond next-generation targeted and exome sequencing  Full Text
AUTHORS: Ana Goncalves ; Manuela Santos; Ana Fortuna; Teresa Coelho; Ricardo Taipa; Manuel Melo Pires; Johan T Den Dunnen; Mario Sousa; Rosario Santos; Jorge Oliveira;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
IN MY: ORCID
22
TITLE: Autosomal recessive spinocerebellar ataxia 20-From genotyping to phenotyping, back and forth  Full Text
AUTHORS: Nuno Maia; Gabriela Soares; Teresa Temudo; Isabel Marques; Barbara Rodrigues; Ana Maria Fortuna; Rosario Santos; Arjan De Brouwer; Paula Jorge;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
IN MY: ORCID
23
TITLE: When rarity clashes with frequency: genetic analysis of a Portuguese patient with thrombocytopenia-absent radius syndrome  Full Text
AUTHORS: Catarina Monteiro; Jorge Oliveira; Ana Goncalves; Eugenia Cruz; Catarina Lau; Margarida Lima; Sara Morais; Rosario Santos;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
IN MY: ORCID
24
25
TITLE: Female FMR1 full-mutation carriers: clinical and molecular characterization  Full Text
AUTHORS: Nataliya Tkachenko; Gabriela Soares; Ana Rita Soares; Celia Azevedo Soares; Ana Rita Goncalves; Nuno Maia; Isabel Marques; Paula Jorge; Rosario Santos; Ana Maria Fortuna;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
IN MY: ORCID
26
TITLE: Novel homozygous pathogenic variants in CCDC103 identified in patients with situs-inversus-totalis and absence of axoneme dynein arms: further insights on reproductive function
AUTHORS: Pereira, R ; Oliveira, J ; Barbosa, T; Oliveira, M; Santos, R; Santos, T; Goncalves, P; Ferraz, L; Barros, A; Sousa, M;
PUBLISHED: 2019, SOURCE: 35th Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology (ESHRE) in HUMAN REPRODUCTION, VOLUME: 34
INDEXED IN: WOS
IN MY: ORCID
27
TITLE: Clinical and Genetic Analysis of Children with Kartagener Syndrome
AUTHORS: Pereira, R ; Barbosa, T; Gales, L ; Elsa Oliveira ; Santos, R; Oliveira, J ; Sousa, M ;
PUBLISHED: 2019, SOURCE: CELLS, VOLUME: 8, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 20
IN MY: ORCID
28
TITLE: Whole-genome sequencing detects a large genomic inversion disrupting the DMD gene in a Becker muscular dystrophy patient
AUTHORS: Oliveira, J; Goncalves, A; Ariyurek, Y; den Dunnen, JT; Sousa, M; Santos, R;
PUBLISHED: 2019, SOURCE: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 27
INDEXED IN: WOS
IN MY: ORCID
29
TITLE: Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
AUTHORS: Maia, N; Sa, MJN ; Tkachenko, N; Soares, G; Marques, I; Rodrigues, B; Fortuna, AM; Santos, R; de Brouwer, APM; Jorge, P;
PUBLISHED: 2018, SOURCE: MOLECULAR SYNDROMOLOGY, VOLUME: 9, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID
30
TITLE: Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies  Full Text
AUTHORS: Jorge, P; Garcia, E; Goncalves, A ; Marques, I; Maia, N; Rodrigues, B; Santos, H; Fonseca, J ; Soares, G; Correia, C; Reis Lima, M; Cirigliano, V; Santos, R;
PUBLISHED: 2018, SOURCE: BMC MEDICAL GENETICS, VOLUME: 19, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 6 Unpaywall
IN MY: ORCID
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