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Items: 4

1.

MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.

San Antonio-Arce V, Fenollar-Cortés M, Oancea Ionescu R, DeSantos-Moreno T, Gallego-Merlo J, Illana Cámara FJ, Cotarelo Pérez MC.

Child Neurol Open. 2016 Apr 4;3:2329048X16630673. doi: 10.1177/2329048X16630673. eCollection 2016 Jan-Dec.

2.

Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies.

Bustamante-Aragones A, Perlado-Marina S, Trujillo-Tiebas MJ, Gallego-Merlo J, Lorda-Sanchez I, Rodríguez-Ramirez L, Linares C, Hernandez C, de Alba MR.

J Clin Med. 2014 Aug 14;3(3):913-22. doi: 10.3390/jcm3030913.

3.

New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma.

Bustamante-Aragones A, Gallego-Merlo J, Trujillo-Tiebas MJ, de Alba MR, Gonzalez-Gonzalez C, Glover G, Diego-Alvarez D, Ayuso C, Ramos C.

J Cyst Fibros. 2008 Nov;7(6):505-10. doi: 10.1016/j.jcf.2008.05.006. Epub 2008 Jun 24.

4.

New type of mutations in three spanish families with choroideremia.

Garcia-Hoyos M, Lorda-Sanchez I, Gómez-Garre P, Villaverde C, Cantalapiedra D, Bustamante A, Diego-Alvarez D, Vallespin E, Gallego-Merlo J, Trujillo MJ, Ramos C, Ayuso C.

Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1315-21. doi: 10.1167/iovs.07-1169.

PMID:
18385043

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