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Listar por autor "Sánchez, Javier"
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Artículo
An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis
Morales Camacho, Rosario María; Sánchez, Javier; Marcos Luque, Irene; Bernal, Ricardo; Falantes, José F.; Pérez Simón, José Antonio (Hindawi, 2014)Refractory anaemia with ring sideroblasts and marked thrombocytosis (RARS-T) is a provisional entity in the World Health ...
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Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13
Sánchez, Javier; Peciña, Ana; Alonso Luengo, Olga; González-Meneses López, Antonio; Vázquez, Rocío; Antiñolo Gil, Guillermo; Borrego, Salud (Hindawi, 2014-10-14)Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized ...
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Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder
Hmadcha, Abdelkrim; Aguilera, Yolanda; Lozano Arana, María Dolores; Mellado, Nuria; Sánchez, Javier; Moya, Cristina; Sánchez Palazón, Luis; Palacios Calvo, José; Antiñolo Gil, Guillermo; Soria Escoms, Bernat (Elsevier, 2016)From 106 human blastocyts donate for research after in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) ...
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Artículo
Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
Sánchez, Javier; García Díaz, Lutgardo; Chinchón, David; Antiñolo Gil, Guillermo (Hindawi Publishing Corporation, 2012)Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with ...