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TITLE: Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
AUTHORS: Maria J Nabais Sá; Kerry A Miller; Mary McQuaid; Nils Koelling; Andrew O M Wilkie; Hugo Wurtele; Arjan P M de Brouwer; Jorge Oliveira;
PUBLISHED: 2021, SOURCE: Journal of Medical Genetics, VOLUME: 59, ISSUE: 8

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TITLE: Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity Full Text
AUTHORS: Cheng, HY; Capponi, S; Wakeling, E; Marchi, E; Li, Q; Zhao, MG; Weng, CH; Stefan, PG; Ahlfors, H; Kleyner, R; Rope, A; Lumaka, A; Lukusa, P; Devriendt, K; Vermeesch, J; Posey, JE; Palmer, EE; Murray, L; Leon, E; Diaz, J; Worgan, L; Mallawaarachchi, A; Vogt, J; de Munnik, SA; Dreyer, L; Baynam, G; Ewans, L; Stark, Z; Lunke, S; Goncalves, AR; Soares, G; Oliveira, J; Fassi, E; Willing, M; Waugh, JL; Faivre, L; Riviere, JB; Moutton, S; Mohammed, S; Payne, K; Walsh, L; Begtrup, A; Sacoto, MJG; Douglas, G; Alexander, N; Buckley, MF; Mark, PR; Ades, LC; Sandaradura, SA; Lupski, JR; Roscioli, T; Agrawal, PB; Kline, AD; Wang, K; Timmers, HTM; Lyon, GJ; ...More
PUBLISHED: 2020, SOURCE: HUMAN MUTATION, VOLUME: 41, ISSUE: 2

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TITLE: MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes
AUTHORS: Malaquias, MJ; Martins, RC; Oliveira, J; Freixo, JP; Magalhaes, M;
PUBLISHED: 2020, SOURCE: CLINICAL GENETICS, VOLUME: 98, ISSUE: 5

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TITLE: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1 (November, 10.1007/s10072-020-04895-4, 2020) Full Text
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P ; Coelho, CR; Damasio, J; Vila Cha, N; Magalhaes, M;
PUBLISHED: 2020, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 42, ISSUE: 2

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TITLE: alpha IIb beta 3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum Full Text
AUTHORS: Morais, S ; Oliveira, J; Lau, C ; Pereira, M; Goncalves, M; Monteiro, C; Goncalves, AR ; Matos, R; Sampaio, M; Cruz, E; Freitas, I; Santos, R; Lima, M ;
PUBLISHED: 2020, SOURCE: PLOS ONE, VOLUME: 15, ISSUE: 12

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TITLE: Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
AUTHORS: Bastida, JM; Morais, S; Palma Barqueros, V; Benito, R; Bermejo, N; Karkucak, M; Trapero Marugan, M; Bohdan, N; Pereira, M; Marin Quilez, A; Oliveira, J; Yucel, Y; Santos, R; Padilla, J; Janusz, K; Lau, C; Martin Izquierdo, M; Couto, E; Ruiz Pividal, JF; Vicente, V; Hernandez Rivas, JM; Gonzalez Porras, JR; Lozano, ML; Lima, M; Rivera, J; ...More
PUBLISHED: 2019, SOURCE: ANNALS OF MEDICINE, VOLUME: 51, ISSUE: 2

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TITLE: Identifying novel genetic causes for hereditary myopathies: from conventional approaches to next-generation sequencing
AUTHORS: Jorge M d S M de Oliveira;
PUBLISHED: 2019

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TITLE: Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6 and DTNBP1 Associated with Significant Clinical Complications
AUTHORS: Bastida, JM; Morais, S; Palma Barqueros, V; Benito, R; Bermejo, N; Karkucak, M; Trapero Marugan, M; Bohdan, N; Pereira, M; Marin Quilez, A; Oliveira, J; Yucel, Y; Santos, R; Padilla, J; Janusz, K; Hortal, A; Garcia, VV; Hernandez Rivas, JM; Lozano, ML; Gonzalez Porras, JR; Lima, M; Rivera, J; ...More
PUBLISHED: 2018, SOURCE: 60th Annual Meeting of the American-Society-of-Hematology (ASH) in BLOOD, VOLUME: 132, ISSUE: Supplement 1

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