| A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case CI Samogy-Costa, E Varella-Branco, F Monfardini, H Ferraz, RA Fock, ... Journal of neurodevelopmental disorders 11 (1), 1-10, 2019 | 40 | 2019 |
| Causas genéticas, epigênicas e, ambientais do transtorno do espectro autista TA Zanolla, RA Fock, E Perrone, AC Garcia, ABA Perez, D Brunoni Cadernos de Pós-graduação em Distúrbios do Desenvolvimento 15 (2), 2015 | 24 | 2015 |
| Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region TF Araujo, EM Ribeiro, AP Arruda, CA Moreno, PFV de Medeiros, ... European Journal of Medical Research 21, 1-11, 2016 | 22 | 2016 |
| Determining the frequency of morphological characteristics in a sample of Brazilian children, E Perrone, TA Zanolla, RA Fock, ABA Perez, D Brunoni Jornal de Pediatria 93, 592-600, 2017 | 8 | 2017 |
| Integrative variation analysis reveals that a complex genotype may specify phenotype in siblings with syndromic autism spectrum disorder VNS Reis, JP Kitajima, AC Tahira, AC Feio-dos-Santos, RA Fock, ... Plos one 12 (1), e0170386, 2017 | 6 | 2017 |
| Uma contribuição ao auxíılio do diagnóstico do autismo a partir do processamento de imagens para extração de medidas antropométricas SP Carvalho, AM Lima, HP Brentani, D Brunoni, RA Fock, FLS Nunes Revista de Informática Teórica e Aplicada 23 (2), 100-123, 2016 | 5 | 2016 |
| Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature FT Bellucco, RA Fock, HR de Oliveira-Júnior, AB Perez, MI Melaragno Cytogenetic and Genome Research 156 (4), 173-178, 2019 | 3 | 2019 |
| Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele VA Meloni, M Moysés-Oliveira, MCC Melo, TP Caneloi, AG Dantas, ... Clinical genetics 88 (6), 593-596, 2015 | 2 | 2015 |
| A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 MP Migliavacca, RA Fock, N Almeida, T Cavalcanti, D Villela, ABA Perez, ... Revista Paulista de Pediatria 41, e2022057, 2023 | 1 | 2023 |
| Autism dysmorphology measure (adm): tradução para o português do Brasil e treinamento da identificação das características dismórficas em pacientes com transtorno do espectro … RA Fock Universidade Federal de São Paulo (UNIFESP), 2015 | 1 | 2015 |
| Brazilian Position Statement for Familial Chylomicronemia Syndrome–2023 MCO Izar, RD Santos Filho, MHV Assad, ACP Chagas, AO Toledo Júnior, ... Arquivos Brasileiros de Cardiologia 120, e20230203, 2023 | | 2023 |
| Posicionamento Brasileiro sobre Síndrome da Quilomicronemia Familiar–2023 MCO Izar, RD Santos Filho, MHV Assad, ACP Chagas, AO Toledo Júnior, ... Arquivos Brasileiros de Cardiologia 120, e20230203, 2023 | | 2023 |
| Um caso brasileiro de síndrome IFAP com ictiose congênita grave e malformações de membros causadas por uma variante rara em MBTPS2 MP Migliavacca, RA Fock, N Almeida, T Cavalcanti, D Villela, ABA Perez, ... Revista Paulista de Pediatria 41, e2022057, 2023 | | 2023 |
| Translation, cultural adaptation, and evidence of instrument validity for a morphological examination performed in children with autism spectrum disorder TA Zanolla, E Perrone, RA Fock, D Bordini, HP Brentani, ABA Perez, ... Revista Paulista de Pediatria 38, 2020 | | 2020 |
| Tradução, adaptação cultural e evidência de validade de instrumento para o exame morfológico aplicado a crianças com transtorno do espectro Autista TA Zanolla, E Perrone, RA Fock, D Bordini, HP Brentani, ABA Perez, ... Revista Paulista de Pediatria 38, 2020 | | 2020 |
| Atypical Prader-Willi and 15q13. 3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation MES Colovati, BM Grossi, GD Nunes, RA Fock, DR Guedes, ... Cytogenetic and Genome Research 158 (4), 192-198, 2019 | | 2019 |
| Cytogenomic characterization of a complex small supernumerary marker chromosome leading to partial 4q and 21q duplications: clinical implication and review of the literature FT Bellucco, RA Fock, Oliveira-, HR, Jr., AB Perez, MI Melaragno EUROPEAN JOURNAL OF HUMAN GENETICS 27, 985-985, 2019 | | 2019 |
| Contents Vol. 158, 2019 L Zhao, MES Colovati, BM Grossi, GD Nunes, RA Fock, DR Guedes, ... Cytogenetic and Genome Research 158 (4), I-IV, 2019 | | 2019 |
| Contents Vol. 156, 2018 P Paulraj, JC Palumbos, V Čulić, R Lasan-Trcić, T Liehr, IN Lebedev, ... Cytogenetic and Genome Research 156 (4), I-IV, 2018 | | 2018 |
| Front & Back Matter P Paulraj, JC Palumbos, V Čulić, R Lasan-Trcić, T Liehr, IN Lebedev, ... Cytogenetic and Genome Research 156 (4), 2018 | | 2018 |
