Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
51
TITLE: Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
AUTHORS: Christine Shieh; Natasha Jones; Brigitte Vanle; Margaret Au; Alden Y Huang; Ana P.G Silva; Hane Lee; Emilie D Douine; Maria G Otero; Andrew Choi; Katheryn Grand; Ingrid P Taff; Mauricio R Delgado; M.J Hajianpour; Andrea Seeley; Luis Rohena; Hilary Vernon; Karen W Gripp; Samantha A Vergano; Sonal Mahida; ...More
PUBLISHED: 2020, SOURCE: Genetics in Medicine, VOLUME: 22, ISSUE: 4
AUTHORS: Christine Shieh; Natasha Jones; Brigitte Vanle; Margaret Au; Alden Y Huang; Ana P.G Silva; Hane Lee; Emilie D Douine; Maria G Otero; Andrew Choi; Katheryn Grand; Ingrid P Taff; Mauricio R Delgado; M.J Hajianpour; Andrea Seeley; Luis Rohena; Hilary Vernon; Karen W Gripp; Samantha A Vergano; Sonal Mahida; ...More
PUBLISHED: 2020, SOURCE: Genetics in Medicine, VOLUME: 22, ISSUE: 4
52
TITLE: Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome
AUTHORS: Riccardo Sangermano; Iris Deitch; Virginie G Peter; Rola Ba-Abbad; Emily M Place; Naomi E Wagner; Anne B Fulton; Luisa Coutinho-Santos; Boris Rosin; Vincent Dunet; Ala’a AlTalbishi; Eyal Banin; Ana Berta Sousa; Mariana Neves; Anna Larson; Mathieu Quinodoz; Michel Michaelides; Tamar Ben-Yosef; Eric A Pierce; Carlo Rivolta; ...More
PUBLISHED: 2020
AUTHORS: Riccardo Sangermano; Iris Deitch; Virginie G Peter; Rola Ba-Abbad; Emily M Place; Naomi E Wagner; Anne B Fulton; Luisa Coutinho-Santos; Boris Rosin; Vincent Dunet; Ala’a AlTalbishi; Eyal Banin; Ana Berta Sousa; Mariana Neves; Anna Larson; Mathieu Quinodoz; Michel Michaelides; Tamar Ben-Yosef; Eric A Pierce; Carlo Rivolta; ...More
PUBLISHED: 2020
53
TITLE: Encefalopatias Epilépticas Infantis: O Novo Paradigma do Diagnóstico Genético
AUTHORS: Rita Martins; Oana Moldovan; Ana Berta Sousa; António Levy; Sofia Quintas;
PUBLISHED: 2020, SOURCE: Acta Médica Portuguesa, VOLUME: 33, ISSUE: 6
AUTHORS: Rita Martins; Oana Moldovan; Ana Berta Sousa; António Levy; Sofia Quintas;
PUBLISHED: 2020, SOURCE: Acta Médica Portuguesa, VOLUME: 33, ISSUE: 6
54
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
WOS55
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
WOS56
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
57
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
58
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
WOS59
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 CrossRef60
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
