Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
51
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

52
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

53
TITLE: Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus
AUTHORS: Travessa, A; Dias, P; Rocha, P; Sousa, AB;
PUBLISHED: 2017, SOURCE: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, VOLUME: 56, ISSUE: 4
AUTHORS: Travessa, A; Dias, P; Rocha, P; Sousa, AB;
PUBLISHED: 2017, SOURCE: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, VOLUME: 56, ISSUE: 4
54
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
55
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

56
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


57
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
58
TITLE: Macrodactyly in tuberous sclerosis complex: Case report and review of the literature
AUTHORS: Mariana Soeiro e Sá; Oana Moldovan; Ana Berta Sousa;
PUBLISHED: 2016, SOURCE: American Journal of Medical Genetics, Part A, VOLUME: 170, ISSUE: 7
AUTHORS: Mariana Soeiro e Sá; Oana Moldovan; Ana Berta Sousa;
PUBLISHED: 2016, SOURCE: American Journal of Medical Genetics, Part A, VOLUME: 170, ISSUE: 7
INDEXED IN:
Scopus

IN MY:
ORCID

59
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
60
TITLE: Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes Full Text
AUTHORS: Ana Justino; Patricia Dias; Maria Joao Pina; Sonia Sousa; Luis Cirnes; Ana Berta Sousa; Jose Carlos Machado ; Jose Luis Costa;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 3
AUTHORS: Ana Justino; Patricia Dias; Maria Joao Pina; Sonia Sousa; Luis Cirnes; Ana Berta Sousa; Jose Carlos Machado ; Jose Luis Costa;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 3