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Functionalization of a Few-Layer Antimonene with Oligonucleotides for DNA Sensing

ACS applied nano materials, 2020-04, Vol.3 (4), p.3625-3633

2020

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Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants

Gene, 2022-01, Vol.808, p.145967-145967, Article 145967

2022

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Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit

Journal of genetic counseling, 2018-08, Vol.27 (4), p.854-862

2018

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Noninvasive diagnosis of hypolactasia with 4-Galactosylxylose (Gaxilose): a multicentre, open-label, phase IIB-III nonrandomized trial

Journal of clinical gastroenterology, 2014-01, Vol.48 (1), p.29-36

2014

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Clinical guidelines for late-onset Pompe disease

Revista de neurologiá, 2012-04, Vol.54 (8), p.497-507

2012

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Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy

Neuromuscular disorders : NMD, 2019-03, Vol.29 (3), p.187-191

2019

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Uveal melanoma in a 19-month-old child

Journal of AAPOS, 2011-12, Vol.15 (6), p.606-608

2011

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New mutations associated with Hirschsprung disease

Anales de Pediatría, 2020-10, Vol.93 (4), p.222-227

2020

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Sequence Variants in BMPR2 and Genes Involved in the Serotonin and Nitric Oxide Pathways in Idiopathic Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension: Relation to Clinical Parameters and Comparison with Left Heart Disease

Respiration, 2010-01, Vol.79 (4), p.279-287

2010

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New mutations associated with Hirschsprung disease

Anales de Pediatría, 2020-10, Vol.93 (4), p.222-227

2020

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Phase I and phase IB clinical trials for the noninvasive evaluation of intestinal lactase with 4-galactosylxylose (gaxilose)

Journal of clinical gastroenterology, 2013-07, Vol.47 (6), p.501-508

2013

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Identification of the first deletion–insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element

Gene, 2013-04, Vol.519 (1), p.169-172

2013

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Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy

Revista de neurologiá, 2015-11, Vol.61 (9), p.416-420

2015

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The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.248-258

2015

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Nuevas mutaciones asociadas a la enfermedad de Hirschsprung

Anales de pediatría (Barcelona, Spain : 2003), 2020-10, Vol.93 (4), p.222-227

2020

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El cine de Krzysztof Kieslowski: la Perfección y el Azar

Vivat academia (Alcalá de Henares), 2009-05 (105), p.235-240

Solera, Jesús

2009

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Compliance and impact of screening on individuals at high risk of breast and ovarian cancer syndrome (BOCS)

Journal of clinical oncology, 2016-05, Vol.34 (15_suppl), p.e13054-e13054

2016

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Genetic and phenotypic characterization of families with familial pancreatic cancer and screening of high-risk individuals

Journal of clinical oncology, 2015-01, Vol.33 (3_suppl), p.242-242

2015

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First one thousand families: Our multidisciplinary experience in the heredo-familial cancer unit from a Spanish University Hospital

Journal of clinical oncology, 2015-05, Vol.33 (15_suppl), p.1556-1556

2015

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Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population

Diabetes research and clinical practice, 2009-07, Vol.85 (1), p.20-23

2009

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The Spanish familial pancreatic cancer registry panfam: Screening of high-risk individuals

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 2015-06, Vol.15 (3), p.S126-S126

2015

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A Missense Mutation in γ-Glutamyl Carboxylase Gene Causes Combined Deficiency of All Vitamin K-Dependent Blood Coagulation Factors

Blood, 1998-12, Vol.92 (12), p.4554-4559

1998

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Variabilidad en la presentación clínica en la enfermedad de Pompe: evolución tras terapia de reemplazo enzimático

Revista de neurologiá, 2015, Vol.61 (9), p.416

2015

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Persistent delivery of factor IX in mice : Gene therapy for hemophilia using implantable microcapsules

Human gene therapy, 1999-05, Vol.10 (8), p.1281-1288

1999

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Expression and Characterization of the Naturally Occurring Mutation L394R in Human γ-Glutamyl Carboxylase

The Journal of biological chemistry, 2000-10, Vol.275 (42), p.32572-32577

2000

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Functionalization of a Few-Layer Antimonene with Oligonucleotides for DNA Sensing

Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants

Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit

Noninvasive diagnosis of hypolactasia with 4-Galactosylxylose (Gaxilose): a multicentre, open-label, phase IIB-III nonrandomized trial

Clinical guidelines for late-onset Pompe disease

Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy

Uveal melanoma in a 19-month-old child

New mutations associated with Hirschsprung disease

Sequence Variants in BMPR2 and Genes Involved in the Serotonin and Nitric Oxide Pathways in Idiopathic Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension: Relation to Clinical Parameters and Comparison with Left Heart Disease

New mutations associated with Hirschsprung disease

Phase I and phase IB clinical trials for the noninvasive evaluation of intestinal lactase with 4-galactosylxylose (gaxilose)

Identification of the first deletion–insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element

Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies

Nuevas mutaciones asociadas a la enfermedad de Hirschsprung

El cine de Krzysztof Kieslowski: la Perfección y el Azar

Compliance and impact of screening on individuals at high risk of breast and ovarian cancer syndrome (BOCS)

Genetic and phenotypic characterization of families with familial pancreatic cancer and screening of high-risk individuals

First one thousand families: Our multidisciplinary experience in the heredo-familial cancer unit from a Spanish University Hospital

Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population

The Spanish familial pancreatic cancer registry panfam: Screening of high-risk individuals

A Missense Mutation in γ-Glutamyl Carboxylase Gene Causes Combined Deficiency of All Vitamin K-Dependent Blood Coagulation Factors

Variabilidad en la presentación clínica en la enfermedad de Pompe: evolución tras terapia de reemplazo enzimático

Persistent delivery of factor IX in mice : Gene therapy for hemophilia using implantable microcapsules

Expression and Characterization of the Naturally Occurring Mutation L394R in Human γ-Glutamyl Carboxylase

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