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Next-generation sequencing for identification of actionable gene mutations in intestinal-type sinonasal adenocarcinoma

Scientific reports, 2021-01, Vol.11 (1), p.2247-2247, Article 2247

2021

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Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis

Blood, 2008-09, Vol.112 (6), p.2539-2545

2008

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Overexpression of Focal Adhesion Kinase in Head and Neck Squamous Cell Carcinoma Is Independent of fak Gene Copy Number

Clinical cancer research, 2006-06, Vol.12 (11), p.3272-3279

2006

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Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome

American journal of human genetics, 2011-05, Vol.88 (5), p.650-656

2011

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Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene

European journal of human genetics : EJHG, 2020-04, Vol.28 (4), p.401-402

2020

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Prelamin A causes progeria through cell-extrinsic mechanisms and prevents cancer invasion

Nature communications, 2013-08, Vol.4 (1), p.2268-2268, Article 2268

2013

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Radixin modulates the function of outer hair cell stereocilia

Communications biology, 2020-12, Vol.3 (1), p.792-792, Article 792

2020

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Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults

Otology & neurotology, 2022-12, Vol.43 (10), p.1125-1136

2022

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Psychotherapeutic nursing as Advanced Clinical Practice for the promotion of mental health in Spain

International nursing review, 2024-06, Vol.71 (2), p.244-249

2024

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Radiation-induced sarcomas of the head and neck

The Journal of craniofacial surgery, 2008-09, Vol.19 (5), p.1287-1291

2008

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Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy

British journal of cancer, 2023-03, Vol.128 (5), p.857-876

2023

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Autophagy is essential for mouse sense of balance

The Journal of clinical investigation, 2010-07, Vol.120 (7), p.2331-2344

2010

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CANVAS: A New Genetic Entity in the Otorhinolaryngologist’s Differential Diagnosis

Otolaryngology-head and neck surgery, 2022-01, Vol.166 (1), p.74-79

2022

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Cell-cell adhesion genes CTNNA2 and CTNNA3 are tumour suppressors frequently mutated in laryngeal carcinomas

Nature communications, 2013, Vol.4 (1), p.2531-2531, Article 2531

2013

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Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options

Acta ophthalmologica (Oxford, England), 2020-12, Vol.98 (8), p.e1034-e1048

2020

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Oncologic outcomes of transoral laser surgery of supraglottic carcinoma compared with a transcervical approach

Head & neck, 2008-06, Vol.30 (6), p.750-755

2008

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Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations

American journal of medical genetics. Part A, 2011-11, Vol.155A (11), p.2617-2625

2011

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Novel germline CDKN2A mutation associated with head and neck squamous cell carcinomas and melanomas

Head & neck, 2013-03, Vol.35 (3), p.E80-E84

2013

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Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit

Acta otorrinolaringologica espanola, 2020-05, Vol.71 (3), p.166-174

2020

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Molecular basis of COVID-19 pathogenesis and in silico studies of potential pharmacological treatment

Revista de la Facultad de Medicina Humana, 2021-03, Vol.21 (2), p.417-432

2021

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Diagnóstico etiológico de la sordera infantil: Recomendaciones CODEPEH 2015

Revista española de discapacidad, 2016-06, Vol.4 (1), p.193-218

2016

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Aetiological diagnosis of child deafness: CODEPEH recommendations

Acta otorrinolaringologica espanola, 2017-01, Vol.68 (1), p.43

2017

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Hereditary hearing loss: genetic counselling

Acta otorrinolaringologica espanola, 2012-05, Vol.63 (3), p.218

2012

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Kabuki syndrome. A clinical approach

Medicina clinica, 2022-02, Vol.158 (4), p.194

2022

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Next-generation sequencing for identification of actionable gene mutations in intestinal-type sinonasal adenocarcinoma

Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis

Overexpression of Focal Adhesion Kinase in Head and Neck Squamous Cell Carcinoma Is Independent of fak Gene Copy Number

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome

Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene

Prelamin A causes progeria through cell-extrinsic mechanisms and prevents cancer invasion

Radixin modulates the function of outer hair cell stereocilia

Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults

Psychotherapeutic nursing as Advanced Clinical Practice for the promotion of mental health in Spain

Radiation-induced sarcomas of the head and neck

Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy

Autophagy is essential for mouse sense of balance

CANVAS: A New Genetic Entity in the Otorhinolaryngologist’s Differential Diagnosis

Cell-cell adhesion genes CTNNA2 and CTNNA3 are tumour suppressors frequently mutated in laryngeal carcinomas

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options

Oncologic outcomes of transoral laser surgery of supraglottic carcinoma compared with a transcervical approach

Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations

Novel germline CDKN2A mutation associated with head and neck squamous cell carcinomas and melanomas

Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit

Molecular basis of COVID-19 pathogenesis and in silico studies of potential pharmacological treatment

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

Diagnóstico etiológico de la sordera infantil: Recomendaciones CODEPEH 2015

Aetiological diagnosis of child deafness: CODEPEH recommendations

Hereditary hearing loss: genetic counselling

Kabuki syndrome. A clinical approach

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