Carmen Mediano - Area Genet Clin & Mol, Hosp Valle De Hebron

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论文共 11 篇作者统计合作学者相似作者

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CMA re evaluation of previous chromosomal studies in the context of new consultations by families allows improvement of genetic counselling

Carmen Mediano, Anna Gassol,Eulalia Rovira, Lourdes Trobo,Neus Castells, Maite Aviles,Elena Garcia-Arumi,Eduardo Tizzano

MOLECULAR CYTOGENETICSno. SUPnan (2019)

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Array comparative genomic hybridization with enhanced exon level CNV coverage detects a significant number of clinically relevant chromosome abnormalities in normal fetal ultrasound pregnancies

Joan Colomer,Neus Castells,Alberto Plaja,M. Angeles Sanchez,Eulalia Rovira,Anna Abuli,Clara Serra,Encarnacion Oliveros,Maria Serrano, Desiree Martinez,M. Guadalupe Gala,Carlota Rodo, M. Teresa Aviles,Teresa Higueras, Manuel Mendoza,Carmen Mediano,Maria Antolin,Elena Garcia-Arumi,Eduardo Tizzano

MOLECULAR CYTOGENETICSno. SUPnan (2019)

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Two new cases of ICF syndrome with no specific facial dysmorphism and due to a p.Gly583Ser homozygous mutation in DNMT3B in a consanguineous family from Gambia

Carmen Mediano, Anna Cueto,Roger Colobran,Andrea Martin-Nalda, Leonor Espi, Lourdes Trobo,Alberto Plaja,Elena Garcia-Arumi,Eduardo Tizzano

MOLECULAR CYTOGENETICSno. SUPnan (2017)

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Routine prenatal diagnosis in a tertiary public hospital: first 3 years of experience using CGH- Array

Marina Giralt,Carmen Mediano,Cristina Hernando,Carlota Rodo, Ma Angeles Sanchez-Duran,Mar Borregan,Eduardo Tizzano

CHROMOSOME RESEARCHno. SUPnan (2015): S116-S117

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Double Chromosomal Abnormal Lines in a Fetus: 45,X/46,XX,i(21)(q10). First Case Reported

Carmen Mediano, Ma Angeles Sanchez Duran,Teresa Higueras,Mauricio Orozco,Marta Mosquera,Matilde Jallas, Antonia Outeiral,Elena Garcia-Arumi

CHROMOSOME RESEARCHno. SUPnan (2013): S56-S57

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Clinical Utility of Chromosomal Microarray Analysis in Invasive Prenatal Diagnosis

Lluís Armengol,Julián Nevado,Clara Serra-Juhé,Alberto Plaja,Carmen Mediano,Fe Amalia García-Santiago,Manel García-Aragonés,Olaya Villa,Elena Mansilla,Cristina Preciado,Luis Fernández,María Ángeles Mori,Lidia García-Pérez,Pablo Daniel Lapunzina,Luis Alberto Pérez-Jurado

Human Genetics（2012）

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Increased Mll Gene Rearrangements in Amniocytes from Fetuses of Mothers Who Smoke

Rosa Ana de la Chica,Carmen Mediano,Marta Salido,Blanca Espinet,Josep Maria Manresa,Francesc Sole

Leukemia research（2011）

引用5浏览0WOS引用

Unusual triploidy presentation in a spontaneous miscarriage

Carmen Mediano, Leonor Espi,Matilde Jallas, Isabel Perez-Cabrero, Juan Sagala

CHROMOSOME RESEARCHno. SUPnan (2011): S205-S205

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Assessment of QF-PCR As the First Approach in Prenatal Diagnosis

Celia Badenas,Laia Rodriguez-Revenga,Carme Morales,Carmen Mediano,Alberto Plaja,Ma Mar Perez-Iribarne,Anna Soler,Nuria Clusellas,Antoni Borrell,Ma Angeles Sanchez,Elisabeth Miro,Aurora Sanchez,Montserrat Mila,Wladimiro Jimenez

The Journal of molecular diagnostics/The journal of molecular diagnostics（2010）

引用40浏览0WOS引用

A Novel De Novo BRCA2 Mutation of Paternal Origin Identified in a Spanish Woman with Early Onset Bilateral Breast Cancer

Orland Diez,Sara Gutiérrez-Enríquez,Carmen Mediano,Miriam Masas,Cristina Saura,Neus Gadea,Judith Balmaña

Breast cancer research and treatment（2009）

引用9浏览0WOS引用

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