Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Otilia Zomeño-Alcalá"'
Autor:
Victoria-Eugenia García-Martínez, Ximo Galiana-Vallés, Otilia Zomeño-Alcalá, Raquel Rodríguez-López, Carmen Llena, María del Carmen Martínez-Romero, Encarna Guillén-Navarro
Publikováno v:
Children, Vol 10, Iss 2, p 356 (2023)
Ectodermal dysplasias (EDs) represent a heterogeneous group of genetic disorders characterized by the abnormal development of ectodermal-derived tissues. They include the involvement of the hair, nails, skin, sweat glands, and teeth. Pathogenic varia
Externí odkaz:
https://doaj.org/article/a02d4a37aebe4a9f975a2ee775bfe584
Autor:
Raquel Rodríguez-López, Javier García-Planells, Marina Martínez-Matilla, Cristian Pérez-García, Amor García Banacloy, Carola Guzmán Luján, Otilia Zomeño Alcalá, Joaquina Belchi Navarro, Juan Martínez-León, Rafael Salguero-Bodes
Publikováno v:
Life, Vol 12, Iss 7, p 1035 (2022)
MYPBC3 and MYH7 are the most frequently mutated genes in patients with hereditary HCM. Homozygous and compound heterozygous genotypes generate the most severe phenotypes. A 35-year-old woman who was a homozygous carrier of the p.(Pro1066Arg) variant
Externí odkaz:
https://doaj.org/article/8bbf5163a4d34652b1629408ac3e3248
Autor:
Raquel Rodríguez-López, Fátima Gimeno-Ferrer, David Albuquerque do Santos, Irene Ferrer-Bolufer, Carola Guzmán Luján, Otilia Zomeño Alcalá, Amor García-Banacloy, Virginia Ballesteros Cogollos, Carlos Sánchez Juan
Publikováno v:
Current Genomics. 23:147-162
Background: Individuals with a phenotype of early-onset severe obesity associated with intellectual disability can have molecular diagnoses ranging from monogenic to complex genetic traits. Severe overweight is the major sign of a syndromic physical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f5fa79412da4cb6780e65ec9317da724
https://doi.org/10.2174/1389202923666220426093436
https://doi.org/10.2174/1389202923666220426093436