Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
31
TITLE: Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
AUTHORS: Polla, DL; Edmondson, AC; Duvet, S; March, ME; Sousa, AB; Lehman, A; Niyazov, D; van Dijk, F; Demirdas, S; van Slegtenhorst, MA; Kievit, AJA; Schulz, C; Armstrong, L; Bi, X; Rader, DJ; Izumi, K; Zackai, EH; de Franco, E; Jorge, P; Huffels, SC; ...More
PUBLISHED: 2021, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 108, ISSUE: 7
AUTHORS: Polla, DL; Edmondson, AC; Duvet, S; March, ME; Sousa, AB; Lehman, A; Niyazov, D; van Dijk, F; Demirdas, S; van Slegtenhorst, MA; Kievit, AJA; Schulz, C; Armstrong, L; Bi, X; Rader, DJ; Izumi, K; Zackai, EH; de Franco, E; Jorge, P; Huffels, SC; ...More
PUBLISHED: 2021, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 108, ISSUE: 7
32
TITLE: Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis
AUTHORS: Frede, N; Rojas Restrepo, J; de Oteyza, ACG; Buchta, M; Hubscher, K; Gamez Diaz, L; Proietti, M; Saghafi, S; Chavoshzadeh, Z; Soler Palacin, P; Galal, N; Adeli, M; Aldave Becerra, JC; Al Ddafari, MS; Ardenyz, O; Atkinson, TP; Kut, FB; Celmeli, F; Rees, H; Kilic, SS; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF CLINICAL IMMUNOLOGY, VOLUME: 41, ISSUE: 8
AUTHORS: Frede, N; Rojas Restrepo, J; de Oteyza, ACG; Buchta, M; Hubscher, K; Gamez Diaz, L; Proietti, M; Saghafi, S; Chavoshzadeh, Z; Soler Palacin, P; Galal, N; Adeli, M; Aldave Becerra, JC; Al Ddafari, MS; Ardenyz, O; Atkinson, TP; Kut, FB; Celmeli, F; Rees, H; Kilic, SS; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF CLINICAL IMMUNOLOGY, VOLUME: 41, ISSUE: 8
33
TITLE: A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation
AUTHORS: Paneque, M ; Carvalho, M ; Rodrigues, F; Saraiva, J; Leonardo, A; Sousa, AB; Machado, V; Goncalves Rocha, M; Sequeiros, J ; Costa, PS; de Lemos, MS;
PUBLISHED: 2021, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 64, ISSUE: 12
AUTHORS: Paneque, M ; Carvalho, M ; Rodrigues, F; Saraiva, J; Leonardo, A; Sousa, AB; Machado, V; Goncalves Rocha, M; Sequeiros, J ; Costa, PS; de Lemos, MS;
PUBLISHED: 2021, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 64, ISSUE: 12
34
TITLE: ASSISTÊNCIA MÉDICA INTERNACIONAL (AMI) – O PODER DOS SOCIAL MEDIA NA AJUDA ÀS ONG-D’S
AUTHORS: Ana Filipa Almeida; Lara Sofia Mendes Bacalhau ; Maria Madalena Eça de Abreu;
PUBLISHED: 2021, SOURCE: Ciências Socialmente Aplicáveis: Integrando Saberes e Abrindo Caminhos Vol I
AUTHORS: Ana Filipa Almeida; Lara Sofia Mendes Bacalhau ; Maria Madalena Eça de Abreu;
PUBLISHED: 2021, SOURCE: Ciências Socialmente Aplicáveis: Integrando Saberes e Abrindo Caminhos Vol I
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CrossRef35
TITLE: Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders
AUTHORS: Juliette Dupont; José Pedro Vieira; Ana Lisa Taylor Tavares; Carla Ribeiro Conceição; Suliman Khan; Aida Maria Bertoli‐Avella; Ana Berta Sousa;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 99, ISSUE: 4
AUTHORS: Juliette Dupont; José Pedro Vieira; Ana Lisa Taylor Tavares; Carla Ribeiro Conceição; Suliman Khan; Aida Maria Bertoli‐Avella; Ana Berta Sousa;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 99, ISSUE: 4
36
TITLE: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
AUTHORS: Shieh, C; Jones, N; Vanle, B; Au, M; Huang, AY; Silva, APG; Lee, H; Douine, ED; Otero, MG; Choi, A; Grand, K; Taff, IP; Delgado, MR; Hajianpour, MJ; Seeley, A; Rohena, L; Vernon, H; Gripp, KW; Vergano, SA; Mahida, S; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE, VOLUME: 22, ISSUE: 5
AUTHORS: Shieh, C; Jones, N; Vanle, B; Au, M; Huang, AY; Silva, APG; Lee, H; Douine, ED; Otero, MG; Choi, A; Grand, K; Taff, IP; Delgado, MR; Hajianpour, MJ; Seeley, A; Rohena, L; Vernon, H; Gripp, KW; Vergano, SA; Mahida, S; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE, VOLUME: 22, ISSUE: 5
37
TITLE: VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease
AUTHORS: Silva, DP; Sa, MSE; Silveira, F; Pinto, S; Gromicho, M; Sousa, AB; Leao, M; De Carvalho, M;
PUBLISHED: 2020, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, VOLUME: 21, ISSUE: 3-4
AUTHORS: Silva, DP; Sa, MSE; Silveira, F; Pinto, S; Gromicho, M; Sousa, AB; Leao, M; De Carvalho, M;
PUBLISHED: 2020, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, VOLUME: 21, ISSUE: 3-4
38
TITLE: Ngly1 deficiency—a rare congenital disorder of deglycosylation
AUTHORS: Lipari Pinto, P; Machado, C; Janeiro, P; Dupont, J; Quintas, S; Berta Sousa, A; Gaspar, A;
PUBLISHED: 2020, SOURCE: JIMD Reports, VOLUME: 53, ISSUE: 1
AUTHORS: Lipari Pinto, P; Machado, C; Janeiro, P; Dupont, J; Quintas, S; Berta Sousa, A; Gaspar, A;
PUBLISHED: 2020, SOURCE: JIMD Reports, VOLUME: 53, ISSUE: 1
39
TITLE: Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare typeIIcollagenopathy
AUTHORS: Travessa, AM; Diaz Gonzalez, F; Mirco, T; Oliveira Ramos, F; Parron Pajares, M; Heath, KE; Sousa, AB;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 182, ISSUE: 11
AUTHORS: Travessa, AM; Diaz Gonzalez, F; Mirco, T; Oliveira Ramos, F; Parron Pajares, M; Heath, KE; Sousa, AB;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 182, ISSUE: 11
40
TITLE: New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV
AUTHORS: Peter, VG; Quinodoz, M; Sadio, S; Held, S; Rodrigues, M; Soares, M; Sousa, AB; Coutinho Santos, L; Damme, M; Rivolta, C;
PUBLISHED: 2020, SOURCE: Human Mutation, VOLUME: 42, ISSUE: 3
AUTHORS: Peter, VG; Quinodoz, M; Sadio, S; Held, S; Rodrigues, M; Soares, M; Sousa, AB; Coutinho Santos, L; Damme, M; Rivolta, C;
PUBLISHED: 2020, SOURCE: Human Mutation, VOLUME: 42, ISSUE: 3
