| Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes S Kondo, BC Schutte, RJ Richardson, BC Bjork, AS Knight, Y Watanabe, ... Nature genetics 32 (2), 285-289, 2002 | 1050 | 2002 |
| Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium … RLL de Lima, SA Hoper, M Ghassibe, ME Cooper, NK Rorick, S Kondo, ... Genetics in medicine 11 (4), 241-247, 2009 | 155 | 2009 |
| An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects WD Fakhouri, F Rahimov, C Attanasio, EN Kouwenhoven, ... Human molecular genetics 23 (10), 2711-2720, 2014 | 71 | 2014 |
| Genomic strategy identifies a missense mutation in WD‐repeat domain 65 (WDR65) in an individual with Van der Woude syndrome NK Rorick, A Kinoshita, JL Weirather, M Peyrard‐Janvid, RLLF de Lima, ... American journal of medical genetics Part A 155 (6), 1314-1321, 2011 | 18 | 2011 |
| Identity by descent and candidate gene mapping of Richieri‐Costa and Pereira syndrome RLL Ferreira de Lima, D Moretti‐Ferreira, A Richieri‐Costa, JC Murray American Journal of Medical Genetics Part A 122 (1), 56-58, 2003 | 17 | 2003 |
| Co‐occurrence of achondroplasia and Down syndrome: Genotype/phenotype association LM de Azevedo Moreira, MA Matos, PP Schiper, AFL Carvalho, IC Gomes, ... Birth Defects Research Part A: Clinical and Molecular Teratology 88 (4), 228-231, 2010 | 16 | 2010 |
| Percepções sobre a doença de Huntington e realização de testes preditivos em indivíduos com história da doença na família A Bittencourt, RLLF de Lima, LM de Azevedo Moreira Revista de Ciências Médicas e Biológicas 9 (2), 126-129, 2010 | 9 | 2010 |
| Cystic fibrosis: Identification and frequency of mutations in a mixed population from a low‐income region in Northeastern Brazil LR Mota, LL de Castro, T da Anunciação Ferreira, RLLF de Lima, ... Pediatric Pulmonology 53 (8), 1006-1008, 2018 | 7 | 2018 |
| A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome JF Dos Santos, LR Mota, PHSA Rocha, RLL Ferreira de Lima Molecular biology reports 43, 1221-1225, 2016 | 7 | 2016 |
| Clinical and molecular heterogeneity in brazilian patients with sotos syndrome GH Vieira, MM Cook, RL Ferreira De Lima, CE Frigerio Domingues, ... Molecular Syndromology 6 (1), 32-38, 2015 | 5 | 2015 |
| Estudos genéticos sobre a fibrose cística no brasil: uma revisão sistemática LR Mota, EL Souza, PHSA Rocha, MJF Vieira, JF Santos, VMGB Lage, ... Instituto de Ciências da Saúde/Universidade Federal da Bahia, 2015 | 5 | 2015 |
| Description of rare mutations and a novel variant in Brazilian patients with cystic fibrosis: a case series from a referral center in the Bahia state LR Mota, VM de Melo Filho, LL de Castro, DF Garcia, R Terse-Ramos, ... Molecular biology reports 45 (6), 2045-2051, 2018 | 4 | 2018 |
| Alterações cromossômicas em 813 atendimentos em serviço universitário de genética comunitária LMA Moreira, LD Espírito Santo, MO Rodrigues, TO Santos, ... Instituto de Ciências da Saúde/Universidade Federal da Bahia, 2011 | 3 | 2011 |
| K162E-A rare and uncategorized CFTR variant causing cystic fibrosis EL Souza, LR Mota, RLLF de Lima, PH Bittencourt, VMCR Guedes, ... Journal of Cystic Fibrosis 20 (3), 489-491, 2021 | 2 | 2021 |
| Case of 15q26-qter deletion associated with a Prader-Willi phenotype JF Dos Santos, AX Acosta, GG Scheibler, PML Pitanga, ES Alves, ... European Journal of Medical Genetics 63 (8), 103955, 2020 | 2 | 2020 |
| Methylphenidate effects on mice odontogenesis and connections with human odontogenesis KS Lima, AES Salles, G de Araújo Costa, MF Yokoyama, ... Odontology 109, 336-348, 2021 | 1 | 2021 |
| Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations L Osiak, JG Saraiva, VF Mestre, LSL Ferrari, WJM Paiva, RLLF de Lima, ... Clinical Dysmorphology 29 (3), 165-166, 2020 | 1 | 2020 |
| A QUESTÃO AGRÁRIA NO LIVRO DIDÁTICO DE HISTÓRIA: UMA ABORDAGEM CRÍTICA DA COLEÇÃO “HISTÓRIA-DAS CAVERNAS AO TERCEIRO MILÊNIO” LDCB Reina, JDS Dias, ML Oliveira Ferreira Melo, MA Andrino, MR Silva, ... ECONOMIA DO CONHECIMENTO E CONTEMPORANEIDADE EM PESQUISA 1 (1), 26-42, 2023 | | 2023 |
| Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil AFL de Carvalho, ES Alves, PML Pitanga, EM Ribeiro, MJR Doriqui, ... Journal of Pediatric Genetics, 2022 | | 2022 |
| A ESCRITURA SOLITÁRIA: LUTA DE MASSAS, SOCIALDEMOCRACIA E A QUESTÃO FEMINISTA EM ROSA LUXEMBURGO ACG Santos, MA Ferreira, RP Reis, GKM Santos, FT Chalco Vargas, ... OPEN SCIENCE RESEARCH IV 4 (1), 824-837, 2022 | | 2022 |
