Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
31
TITLE: VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease
AUTHORS: Daniela Pimenta Silva; Mariana S E Soeiro E Sa; Fernando Silveira; Susana Pinto; Marta Gromicho; Ana Berta Sousa; Miguel Leao; Mamede De Carvalho;
PUBLISHED: 2020, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, VOLUME: 21, ISSUE: 3-4
AUTHORS: Daniela Pimenta Silva; Mariana S E Soeiro E Sa; Fernando Silveira; Susana Pinto; Marta Gromicho; Ana Berta Sousa; Miguel Leao; Mamede De Carvalho;
PUBLISHED: 2020, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, VOLUME: 21, ISSUE: 3-4
INDEXED IN: 
Scopus 
WOS
Scopus WOS32
TITLE: Epileptic Encephalopathies of Childhood: The New Paradigm of Genetic Diagnosis Full Text
AUTHORS: Rita Martins; Oana Moldovan; Ana Berta Sousa; Antonio Levy; Sofia Quintas;
PUBLISHED: 2020, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 33, ISSUE: 6
AUTHORS: Rita Martins; Oana Moldovan; Ana Berta Sousa; Antonio Levy; Sofia Quintas;
PUBLISHED: 2020, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 33, ISSUE: 6
INDEXED IN: WOS
WOS33
TITLE: Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare typeIIcollagenopathy Full Text
AUTHORS: Andre M Travessa; Francisca Diaz Gonzalez; Teresa Mirco; Filipa Oliveira Ramos; Manuel Parron Pajares; Karen E Heath; Ana Berta Sousa;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 182, ISSUE: 11
AUTHORS: Andre M Travessa; Francisca Diaz Gonzalez; Teresa Mirco; Filipa Oliveira Ramos; Manuel Parron Pajares; Karen E Heath; Ana Berta Sousa;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 182, ISSUE: 11
INDEXED IN: Scopus WOS
Scopus WOS34
TITLE: STAG1 haploinsufficiency an emerging phenotype Full Text
AUTHORS: Ana Sousa; Sonia Custodio; Andre Travessa; Ana Berta Sousa;
PUBLISHED: 2019, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 12
AUTHORS: Ana Sousa; Sonia Custodio; Andre Travessa; Ana Berta Sousa;
PUBLISHED: 2019, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 12
INDEXED IN: WOS
WOS35
TITLE: A new case of Bain type X-linked syndromic intellectual disability Full Text
AUTHORS: Mariana Soeiro E Sa; Oana Moldovan; Ana Berta Sousa;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Mariana Soeiro E Sa; Oana Moldovan; Ana Berta Sousa;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS36
TITLE: Description of a child with a 6q14.1-q16.1 interstitial deletion: A very rare entity with airway manifestations Full Text
AUTHORS: Catarina Duarte; Rosa Roque Farinha; Ana Rita Santos; Patricia Dias; Ana Berta Sousa; Antonio Marques Pereira;
PUBLISHED: 2016, SOURCE: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, VOLUME: 84
AUTHORS: Catarina Duarte; Rosa Roque Farinha; Ana Rita Santos; Patricia Dias; Ana Berta Sousa; Antonio Marques Pereira;
PUBLISHED: 2016, SOURCE: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, VOLUME: 84
37
TITLE: Macrodactyly in Tuberous Sclerosis Complex: Case Report and Review of the Literature Full Text
AUTHORS: Mariana S E Soeiro e Sa; Oana Moldovan; Ana Berta Sousa;
PUBLISHED: 2016, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 170, ISSUE: 7
AUTHORS: Mariana S E Soeiro e Sa; Oana Moldovan; Ana Berta Sousa;
PUBLISHED: 2016, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 170, ISSUE: 7
INDEXED IN: WOS
WOS38
TITLE: A sporadic case of pseudohypoparathyroidism type Ib
AUTHORS: Joana Morgado; Patricia Dias; Maria de Lurdes Sampaio; Ana Berta Sousa;
PUBLISHED: 2016, SOURCE: REVISTA PORTUGUESA DE ENDOCRINOLOGIA DIABETES E METABOLISMO, VOLUME: 11, ISSUE: 2
AUTHORS: Joana Morgado; Patricia Dias; Maria de Lurdes Sampaio; Ana Berta Sousa;
PUBLISHED: 2016, SOURCE: REVISTA PORTUGUESA DE ENDOCRINOLOGIA DIABETES E METABOLISMO, VOLUME: 11, ISSUE: 2
INDEXED IN: WOS 
CrossRef
WOS CrossRef39
TITLE: Macrodactyly in tuberous sclerosis complex: Case report and review of the literature. Macrodactyly in Tuberous Sclerosis Complex Full Text
AUTHORS: Mariana Soeiro e Sá; Oana Moldovan; Ana Berta Sousa;
PUBLISHED: 2016, SOURCE: Am. J. Med. Genet. - American Journal of Medical Genetics Part A, VOLUME: 170, ISSUE: 7
AUTHORS: Mariana Soeiro e Sá; Oana Moldovan; Ana Berta Sousa;
PUBLISHED: 2016, SOURCE: Am. J. Med. Genet. - American Journal of Medical Genetics Part A, VOLUME: 170, ISSUE: 7
INDEXED IN: CrossRef
CrossRef40
TITLE: Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. ReCQL4 mutations in 39 patients Full Text
AUTHORS: Piard, J; Aral, B; Vabres, P; Holder Espinasse, M; Megarbane, A; Gauthier, S; Capra, V; Pierquin, G; Callier, P; Baumann, C; Pasquier, L; Baujat, G; Martorell, L; Rodriguez, A; Brady, AF; Boralevi, F; Gonzalez Ensenat, MA; Rio, M; Bodemer, C; Philip, N; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 87, ISSUE: 3
AUTHORS: Piard, J; Aral, B; Vabres, P; Holder Espinasse, M; Megarbane, A; Gauthier, S; Capra, V; Pierquin, G; Callier, P; Baumann, C; Pasquier, L; Baujat, G; Martorell, L; Rodriguez, A; Brady, AF; Boralevi, F; Gonzalez Ensenat, MA; Rio, M; Bodemer, C; Philip, N; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 87, ISSUE: 3
