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Dark-lumen MR colonography with fecal tagging: a comparison of water enema and air methods of colonic distension for detecting colonic neoplasms.
- Published in:
- 2008
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- Publication type:
- journal article
Is microbubble-enhanced ultrasonography sufficient for assessment of response to percutaneous treatment in patients with early hepatocellular carcinoma?
- Published in:
- 2006
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- Publication type:
- journal article
Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.
- Published in:
- Clinical Genetics, 2014, v. 86, n. 6, p. 601, doi. 10.1111/cge.12334
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- Publication type:
- Article
Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 5, p. 446, doi. 10.1111/j.1399-0004.2011.01796.x
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- Publication type:
- Article
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 4, p. 360, doi. 10.1111/j.1399-0004.2008.00963.x
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- Publication type:
- Article
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype–phenotype correlation.
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- Clinical Genetics, 2005, v. 68, n. 3, p. 204, doi. 10.1111/j.1399-0004.2005.00481.x
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- Publication type:
- Article
Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease.
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- Clinical Genetics, 1996, v. 50, n. 5, p. 380, doi. 10.1111/j.1399-0004.1996.tb02392.x
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- Publication type:
- Article
Retinitis pigmentosa in Spain.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 120, doi. 10.1111/j.1399-0004.1995.tb04069.x
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- Publication type:
- Article
Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study.
- Published in:
- European Journal of Neurology, 2008, v. 15, n. 12, p. 1338, doi. 10.1111/j.1468-1331.2008.02312.x
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- Publication type:
- Article
Utility of new mature erythrocyte and reticulocyte indices in screening for iron-deficiency anemia in a pediatric population.
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- International Journal of Laboratory Hematology, 2013, v. 35, n. 4, p. 400, doi. 10.1111/ijlh.12030
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- Publication type:
- Article
Figuras femeninas en el teatro de Sigfredo Gordón Carmona.
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- Foro Hispánico, 2014, v. 48, p. 347
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- Publication type:
- Article
Management and return of incidental genomic findings in clinical trials.
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- Pharmacogenomics Journal, 2015, v. 15, n. 1, p. 1, doi. 10.1038/tpj.2014.62
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- Publication type:
- Article
Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic population.
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- Pharmacogenomics Journal, 2013, v. 13, n. 2, p. 197, doi. 10.1038/tpj.2011.57
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- Publication type:
- Article
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
- Published in:
- Human Genetics, 2021, v. 140, n. 12, p. 1665, doi. 10.1007/s00439-021-02343-7
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- Publication type:
- Article
Five years' experience of the clinical exome sequencing in a Spanish single center.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-23786-6
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- Publication type:
- Article
Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR.
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- Prenatal Diagnosis, 2003, v. 23, n. 3, p. 232, doi. 10.1002/pd.570
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- Publication type:
- Article
Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma.
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- Prenatal Diagnosis, 2002, v. 22, n. 10, p. 946, doi. 10.1002/pd.439
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- Publication type:
- Article
Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimesters.
- Published in:
- 2001
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- Publication type:
- journal article
Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid.
- Published in:
- 2000
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- Publication type:
- journal article
Prenatal diagnosis on fetal cells obtained from maternal peripheral blood: Report of 66 cases.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 10, p. 934, doi. 10.1002/(SICI)1097-0223(199910)19:10<934::AID-PD675>3.0.CO;2-P
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- Publication type:
- Article
Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation.
- Published in:
- 1999
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- Publication type:
- journal article
ESTUDIO DE LA ACTIVIDAD ANTIOXIDANTE Y PORCENTAJE DE BIOACTIVIDAD DE LOS COMPUESTOS FUNCIONALES EN COL DE MILÁN DESPUÉS DE LA DIGESTIÓN IN VITRO.
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- Revista Nutrición Clínica y Dietética Hospitalaria, 2018, v. 38, n. Supp1, p. 54
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- Publication type:
- Article
CONTENIDO DE LAS DIFERENTES FAMILIAS DE GLUCOSINOLATOS EN LA FRACCIÓN BIODISPONIBLE TRAS LA DIGESTIÓN IN VITRO EN COL DE MILÁN.
- Published in:
- Revista Nutrición Clínica y Dietética Hospitalaria, 2018, v. 38, n. Supp1, p. 38
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- Publication type:
- Article
BIOACCESIBILIDAD DEL CONTENIDO TOTAL DE GLUCOSINOLATOS INTACTOS EN COL DE MILÁN.
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- Revista Nutrición Clínica y Dietética Hospitalaria, 2018, v. 38, n. Supp1, p. 32
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- Publication type:
- Article
Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- Scientific Reports, 2016, p. 35370, doi. 10.1038/srep35370
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- Publication type:
- Article
Detection and quantification of melatonin and serotonin in eight Sweet Cherry cultivars ( Prunus avium L.).
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- European Food Research & Technology, 2009, v. 229, n. 2, p. 223, doi. 10.1007/s00217-009-1042-z
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- Publication type:
- Article
Implication of non-coding PAX6 mutations in aniridia.
- Published in:
- Human Genetics, 2018, v. 137, n. 10, p. 831, doi. 10.1007/s00439-018-1940-x
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- Publication type:
- Article
A Recurrent Nonsense Mutation Occurring as a de novo Event in a Patient with Recessive Dystrophic Epidermolysis Bullosa.
- Published in:
- Dermatology (10188665), 2011, v. 223, n. 3, p. 219, doi. 10.1159/000330331
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- Publication type:
- Article
FRONTERA TECNOLÓGICA Y EFICIENCIA TÉCNICA DE LA EDUCACIÓN SUPERIOR EN MÉXICO.
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- Revista Mexicana de Investigación Educativa, 2012, v. 17, n. 54, p. 793
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- Publication type:
- Article
Assignment<FOOTREF>[sup 1] </FOOTREF> of the calcium-binding mitochondrial carrier Aralar1 gene (SLC25A12) to human chromosome band 2q31 by in situ hybridization.
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- Cytogenetics & Cell Genetics, 2000, v. 89, n. 3/4, p. 143, doi. 10.1159/000015595
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- Publication type:
- Article
Influence of storage period and shelf-life on the incidence of chilling injury and microbial load in "Angeleno" and "Larry Ann" plums.
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- Emirates Journal of Food & Agriculture (EJFA), 2020, v. 32, n. 5, p. 376, doi. 10.9755/ejfa.2020.v32.i5.2108
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- Publication type:
- Article
Indicador de infraestructuras productivas por entidad federativa en México, 1970-2003.
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- Gestión y Política Pública, 2009, v. 18, n. 2, p. 379
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- Publication type:
- Article
Efectos derrame interestatales y transfronterizos de la red de carreteras: Un estudio para México.
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- Frontera Norte, 2011, v. 23, n. 46, p. 61
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- Publication type:
- Article
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85182-w
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- Publication type:
- Article
The Imprisoned Splendor.
- Published in:
- 2012
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- Publication type:
- Book Review
Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience: Prenatal diagnosis in FGFR3 gene.
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- Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 8, p. 455, doi. 10.1007/s10815-009-9339-1
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- Publication type:
- Article
SHORT COMMUNICATION.
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- Journal of Assisted Reproduction & Genetics, 2006, v. 23, n. 5, p. 253, doi. 10.1007/s10815-005-9020-2
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- Publication type:
- Article
Prevalence, multimodal imaging and genotype-phenotype assessment of trauma related subretinal fibrosis in stargardt disease.
- Published in:
- European Journal of Ophthalmology, 2022, v. 32, n. 6, p. 3201, doi. 10.1177/11206721221093986
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- Publication type:
- Article
PRODUCTIVE CHARACTERISTICS AND VOLATILE COMPOUNDS OF SEVEN BROCCOLI CULTIVARS.
- Published in:
- Italian Journal of Food Science / Rivista Italiana di Scienza degli Alimenti, 2009, v. 21, n. 1, p. 17
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- Publication type:
- Article
Evaluation of tumor response after locoregional therapies in hepatocellular carcinoma: are response evaluation criteria in solid tumors reliable?
- Published in:
- 2009
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- Publication type:
- Journal Article
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
- Published in:
- Human Mutation, 2006, v. 27, n. 3, p. 290, doi. 10.1002/humu.9404
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- Publication type:
- Article
Chromosomal mosaicism for isochromosome 11q confined to CVS direct preparations.
- Published in:
- 2001
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- Publication type:
- journal article
Sonographic, cytogenetic and DNA analysis in four 69,XXX fetuses diagnosed in the second trimester.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers.
- Published in:
- Haemophilia, 2008, v. 14, n. 3, p. 593, doi. 10.1111/j.1365-2516.2008.01670.x
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- Publication type:
- Article
Identification of three novel mutations in the MYO7A gene.
- Published in:
- Human Mutation, 1999, v. 14, n. 2, p. 181, doi. 10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU11>3.0.CO;2-3
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- Publication type:
- Article
Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish familes affected with autosomal dominant retinal degenerations.
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- Human Mutation, 1998, v. 12, n. 1, p. 70, doi. 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU11>3.0.CO;2-M
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- Publication type:
- Article
Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population.
- Published in:
- British Journal of Dermatology, 2013, v. 168, n. 1, p. 226, doi. 10.1111/j.1365-2133.2012.11128.x
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- Publication type:
- Article
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
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- British Journal of Dermatology, 2011, v. 165, n. 3, p. 683, doi. 10.1111/j.1365-2133.2011.10428.x
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- Publication type:
- Article
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
- Published in:
- British Journal of Dermatology, 2010, v. 163, n. 1, p. 155, doi. 10.1111/j.1365-2133.2010.09713.x
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- Publication type:
- Article
Parental origin of chromosomal non-disjunction in a 49,XXXXY male using recombinant-DNA techniques.
- Published in:
- Clinical Genetics, 1989, v. 36, n. 3, p. 152, doi. 10.1111/j.1399-0004.1989.tb03181.x
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- Publication type:
- Article