Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Sobreira, Joselito"'
Autor:
Mendes, Camila, Loureiro, Thereza, Villela, Darine, Bittencourt, Marcelo Imbroinise, Sobreira, Joselito, Bermeo, Diana, Gomes, Mireille, Alencar, Dayse, de Castro, Luciana Santos Serrao, Fock, Rodrigo Ambrosio, Tinoco, Maria Luisa, Galvão, Henrique, Scapulatempo-Neto, Cristovam, Schiavetti, Katia, Senerchia, Andreza A., Gurgel, Maria Helane Costa
Publikováno v:
In Molecular Genetics and Metabolism Reports September 2024 40
Akademický článek
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Autor:
Zahra, Qandeel, Cakmak, Cagla, Koprulu, Mine, Shuaib, Muhammad, Sobreira, Nara, Kalsner, Louisa, Sobreira, Joselito, Sacoto, Maria J. Guillen, Malik, Sajid, Tolun, Aslihan
We describe five members of a consanguineous Pakistani family (Family I) plus two affected children from families of different ethnic origins presenting with neurodevelopmental disorders with overlapping features. All affected individuals from famili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=r39c86a4b39b::2ca713b05aab1e3b20ea5f98104a33ee
https://aperta.ulakbim.gov.tr/record/6527
https://aperta.ulakbim.gov.tr/record/6527
Autor:
Zahra, Qandeel, Çakmak, Çağla, Koprulu, Mine, Shuaib, Muhammad, Sobreira, Nara, Kalsner, Louisa, Sobreira, Joselito, Guillen Sacoto, Maria J., Malik, Sajid, Tolun, Aslıhan
Publikováno v:
Journal of Human Genetics; December 2020, Vol. 65 Issue: 12 p1115-1123, 9p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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K zobrazení výsledku je třeba se přihlásit.
Autor:
Cohen RWF; Instituto Fernandes Figueira IFF/FIOCRUZ, Rio de Janeiro, RJ, Brazil.; Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro, RJ, Brazil., Sztajnbok F; Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro, RJ, Brazil.; Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil., de Marca EL; Hospital Pediátrico Jutta Batista, Rede Dor Rio de Janeiro, RJ, Brazil., Capelozzi VL; Universidade do Estado de São Paulo, São Paulo, SP, Brazil., Horovitz DDG; Instituto Fernandes Figueira IFF/FIOCRUZ, Rio de Janeiro, RJ, Brazil., Nunez E; Hospital Pediátrico Jutta Batista, Rede Dor, Rio de Janeiro, RJ, Brazil., Galvão HCR; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Sobreira J; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Bermeo DCS; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Folescu TW; Instituto Fernandes Figueira IFF/FIOCRUZ, Rio de Janeiro, RJ, Brazil.
Publikováno v:
Pediatric pulmonology [Pediatr Pulmonol] 2024 Oct 16. Date of Electronic Publication: 2024 Oct 16.
Autor:
Zahra Q; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Çakmak Ç; Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey., Koprulu M; Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.; Department of Molecular Biology and Genetics, Istanbul Technical University, Istanbul, Turkey., Shuaib M; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA., Kalsner L; Departments of Neurology and Pediatrics, University of Connecticut School of Medicine and Connecticut Children's Medical Center, Farmington, CT, USA., Sobreira J; Division of Genetics, Department of Morphology and Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA., Malik S; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. malik@qau.edu.pk., Tolun A; Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey. tolunasli@itu.edu.tr.; Department of Molecular Biology and Genetics, Istanbul Technical University, Istanbul, Turkey. tolunasli@itu.edu.tr.
Publikováno v:
Journal of human genetics [J Hum Genet] 2020 Dec; Vol. 65 (12), pp. 1115-1123. Date of Electronic Publication: 2020 Jul 31.