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Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre

BMC medical genetics, 2020-11, Vol.21 (1), p.233, Article 233

2020

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Total and speciated urinary arsenic levels in the Spanish population

The Science of the total environment, 2016-11, Vol.571, p.164-171

2016

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Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient

BMC pediatrics, 2019-04, Vol.19 (1), p.92-92, Article 92

2019

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A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report

Egyptian Journal of Medical Human Genetics, 2023-12, Vol.24 (1), p.32, Article 32

2023

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Description of a patient with developmental delay and dysmorphic features caused by a novel SHANK2 deletion

Egyptian Journal of Medical Human Genetics, 2023-12, Vol.24 (1), p.82, Article 82

2023

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Three novel variants in SOX10 gene: Waardenburg and PCWH syndromes

Egyptian Journal of Medical Human Genetics, 2022-03, Vol.23 (1), p.54, Article 54

2022

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No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon

Advances in laboratory medicine, 2023-06, Vol.4 (2), p.185-189

2023

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Effect of AGG Interruptions on FMR1 Maternal Transmissions

Frontiers in molecular biosciences, 2020-07, Vol.7, p.135-135

2020

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A deep vein thrombosis caused by 20209C>T mutation in homozygosis of the prothrombin gene in a Caucasian patient

Biochemia medica, 2014-01, Vol.24 (1), p.159-166

2014

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A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2021-09, Vol.2 (3), p.451-456

2021

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Thyroid hormones according to gestational age in pregnant Spanish women

BMC research notes, 2009-11, Vol.2 (1), p.237-237

2009

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A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2020-12, Vol.1 (4)

2020

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A study of crystalluria: effectiveness of including hygienic-dietary recommendations in laboratory reports

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2021-03, Vol.2 (1), p.109-114

2021

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Management of post-analytical processes in the clinical laboratory according to ISO 15189:2012. Considerations about the management of clinical samples, ensuring quality of post-analytical processes, and laboratory information management

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2021-09, Vol.2 (3), p.373-380

2021

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Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene

European journal of neurology, 2023-08, Vol.30 (8), p.2539-2543

2023

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Cardiac biomarkers and exercise duration and intensity during a cycle-touring event

Clinical journal of sport medicine, 2009-07, Vol.19 (4), p.293-299

2009

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Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum

European journal of neurology, 2022-01, Vol.29 (1), p.e1-e2

2022

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A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report

Egyptian Journal of Medical Human Genetics, 2023-12, Vol.24 (1), p.83, Article 83

2023

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Tamaño de repeticiones CTG no aumentado en la transmisión de un padre con alelo expandido: falsa sospecha de fenómeno de contracción

Advances in laboratory medicine, 2023-06, Vol.4 (2), p.190-194

2023

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Reticulocyte hemoglobin content (MCHr) in the detection of iron deficiency

Journal of trace elements in medicine and biology, 2017-09, Vol.43, p.29-32

2017

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Is there an association between fibromyalgia and below-normal levels of urinary cortisol?

BMC research notes, 2008-12, Vol.1 (1), p.134-134, Article 134

2008

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Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study

JMIR dermatology, 2023-06, Vol.6, p.e39567-e39567

2023

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Síndrome de Allan-Herndon-Dudley: un diagnóstico a descartar ante todo lactante varón con hipotonía sin causa determinada

Andes pediatrica : revista Chilena de pediatría, 2022-06, Vol.93 (3), p.428-433

2022

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Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report

Bulletin of the National Research Centre, 2022-12, Vol.46 (1), p.1-6, Article 247

2022

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Estudio de la cristaluria: efectividad de la incorporación de medidas higiénico-dietéticas en los informes de laboratorio

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2021-03, Vol.2 (1), p.115-120

2021

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Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre

Total and speciated urinary arsenic levels in the Spanish population

Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient

A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report

Description of a patient with developmental delay and dysmorphic features caused by a novel SHANK2 deletion

Three novel variants in SOX10 gene: Waardenburg and PCWH syndromes

No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon

Effect of AGG Interruptions on FMR1 Maternal Transmissions

A deep vein thrombosis caused by 20209C>T mutation in homozygosis of the prothrombin gene in a Caucasian patient

A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease

Thyroid hormones according to gestational age in pregnant Spanish women

A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years

A study of crystalluria: effectiveness of including hygienic-dietary recommendations in laboratory reports

Management of post-analytical processes in the clinical laboratory according to ISO 15189:2012. Considerations about the management of clinical samples, ensuring quality of post-analytical processes, and laboratory information management

Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene

Cardiac biomarkers and exercise duration and intensity during a cycle-touring event

Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum

A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report

Tamaño de repeticiones CTG no aumentado en la transmisión de un padre con alelo expandido: falsa sospecha de fenómeno de contracción

Reticulocyte hemoglobin content (MCHr) in the detection of iron deficiency

Is there an association between fibromyalgia and below-normal levels of urinary cortisol?

Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study

Síndrome de Allan-Herndon-Dudley: un diagnóstico a descartar ante todo lactante varón con hipotonía sin causa determinada

Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report

Estudio de la cristaluria: efectividad de la incorporación de medidas higiénico-dietéticas en los informes de laboratorio

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