Zobrazeno 1 - 10
of 14
pro vyhledávání: '"López-Aríztegui MA"'
Autor:
Merino S; Molecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. s.merino.fernandez@osakidetza.eus., Ibarluzea N; Molecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. nekane.ibarluzeaguenaga@osakidetza.eus., Maortua H; Molecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. hiart.maortuaolabe@osakidetza.eus.; Clinical Group Affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), 46010-Valencia, Spain. hiart.maortuaolabe@osakidetza.eus., Prieto B; Human Reproduction Unit, Obstetrics and Gynecology Department, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. mariabegona.prietomolano@osakidetza.eus., Rouco I; Ataxias and Spastic Paraplegias Unit, Neurology Department, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. idoia.roucoaxpe@osakidetza.eus., López-Aríztegui MA; Clinical Group Affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), 46010-Valencia, Spain. malopezariztegui@yahoo.es.; Genetics Counseling, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. malopezariztegui@yahoo.es., Tejada MI; Molecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, 48903-Barakaldo-Bizkaia, Spain. mariaisabel.tejadaminguez@osakidetza.eus.; Clinical Group Affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), 46010-Valencia, Spain. mariaisabel.tejadaminguez@osakidetza.eus.
Publikováno v:
Genes [Genes (Basel)] 2016 Oct 21; Vol. 7 (10). Date of Electronic Publication: 2016 Oct 21.
Autor:
Lafuente-Hidalgo M; Unidad de Neuropediatría, Servicio de Pediatría, BioCruces Health Research Institute, Hospital Universitario de Cruces, Baracaldo, Vizcaya, España. Electronic address: miguel.lafuentehidalgo@osakidetza.net., García Besteiro M; Servicio de Pediatría, BioCruces Health Research Institute, Hospital Universitario de Cruces, Baracaldo, Vizcaya, España., Acedo Alonso Y; Servicio de Pediatría, BioCruces Health Research Institute, Hospital Universitario de Cruces, Baracaldo, Vizcaya, España., López Aríztegui MA; Servicio de Genética, BioCruces Health Research Institute, Hospital Universitario de Cruces, Baracaldo, Vizcaya, España., Navajas Gutierrez A; Unidad de Hemato-Oncología Pediátricas, Servicio de Pediatría, BioCruces Health Research Institute, Hospital Universitario de Cruces, Baracaldo, Vizcaya, España.
Publikováno v:
Anales de pediatria (Barcelona, Spain : 2003) [An Pediatr (Barc)] 2014 Dec; Vol. 81 (6), pp. e52-4. Date of Electronic Publication: 2014 May 27.
Autor:
Plaja A; Citogenética, General Lab-Laboratoris d'Anàlisis, Barcelona, Spain., Lloveras E, Martinez-Bouzas C, Barreña B, Del Campo M, Fernández A, Herrero M, Barranco L, Palau N, López-Aríztegui MA, Català V, Tejada MI
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2013 Sep; Vol. 161A (9), pp. 2363-8. Date of Electronic Publication: 2013 Jul 25.
Autor:
Maortua H; Molecular Genetics Laboratory, Genetics Service, BioCruces Health Research Institute, Cruces University Hospital, Barakaldo-Bizkaia, Spain., Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR, Calvo MT, Guitart M, Gabau E, Botella MP, Gener B, Rubio I, López-Aríztegui MA, Tejada MI
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2013 Sep; Vol. 15 (5), pp. 723-9. Date of Electronic Publication: 2013 Jun 26.
Autor:
Maortua H; Laboratorio de Genética Molecular, Servicio de Genética, Hospital Universitario Cruces, Instituto BioCruces, Barakaldo-Bizkaia, Spain., Martínez-Bouzas C, Calvo MT, Domingo MR, Ramos F, García-Ribes A, Martínez MJ, López-Aríztegui MA, Puente N, Rubio I, Tejada MI
Publikováno v:
BMC medical genetics [BMC Med Genet] 2012 Aug 06; Vol. 13, pp. 68. Date of Electronic Publication: 2012 Aug 06.
Autor:
Tejada MI; Molecular Genetics Laboratory, Department of Biochemistry, Cruces Hospital, 48903 Barakaldo, Bizkaia, Spain. mariaisabel.tejadaminguez@osakidetza.net, Martínez-Bouzas C, García-Ribes A, Larrucea S, Acquadro F, Cigudosa JC, Belet S, Froyen G, López-Aríztegui MA
Publikováno v:
Pediatrics [Pediatrics] 2011 Oct; Vol. 128 (4), pp. e1029-33. Date of Electronic Publication: 2011 Sep 19.
Autor:
Sun, Meiling1,2 (AUTHOR), Wang, Ruixue1,2 (AUTHOR), Zhang, Hongguo1,2 (AUTHOR), Jiang, Yuting1,2 (AUTHOR), He, Jing1,2 (AUTHOR), Li, Shibo3 (AUTHOR), Liu, Ruizhi1,2 (AUTHOR) lrz410@126.com
Publikováno v:
Experimental & Therapeutic Medicine. Apr2020, Vol. 19 Issue 4, p2927-2932. 6p.
Autor:
Pinto, Irene Plaza1,2 iplazapinto@gmail.com, Minasi, Lysa Bernardes1,2 lysabernardes@yahoo.com.br, da Cruz, Alex Silva1,3 a.silva.cruz@hotmail.com, de Melo, Aldaires Vieira4 aldairesv@gmail.com, Cruz e Cunha, Damiana Míriam da1,2 damcunhabio@gmail.com, Roncato, Rodrigo3 roncato.r@gmail.com, Ribeiro, Cristiano Luiz1 cristianoluiz@pucgoias.edu.br, da Silva, Claudio Carlos1,2,5 dasilva.genetica@gmail.com, e Silva, Daniela de Melo1,6 silvadanielamelo@gmail.com, da Cruz, Aparecido Divino1,2,3,4,5 acruz@pucgoias.edu.br
Publikováno v:
Molecular Cytogenetics (17558166). 2014, Vol. 7 Issue 1, p3-16. 14p.
Female genital malformations represent miscellaneous deviations from normal anatomy. With a prevalence of approximately 6% in the general population, they might be associated with health problems, potentially dangerous complications or poor reproduct
Autor:
Lee-Jun C. Wong
Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact tha