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Development of NIPBL Locus‐Specific Database Using LOVD: From Novel Mutations to Further Genotype–Phenotype Correlations in Cornelia de Lange Syndrome
The establishment of Locus Specific Databases (LSDB) is a crucial aspect for the Human Genetics field and one of the aims of the Human Variation Project. We report the development of a publiclyExpand
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Frailty in End-Stage Renal Disease Patients under Dialysis and Its Association with Clinical and Biochemical Markers.
Frailty is a common complication in elderly patients with end-stage renal disease (ESRD) under dialysis, which is a strong risk factor for low quality of life, morbidity, and mortality. In this work,Expand
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Tumores das glândulas parótidas - Casuística dos últimos 10 anos do serviço de ORL do IPO de Lisboa
The salivary gland tumors are uncommon neoplasms of the head and neck region, corresponding to 3-5% of the tumors in this location. In this article we will be doing a retrospective study of theExpand
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Laringectomia total - Resultados clínicos e factores prognósticos
The choice between total laryngectomy (TL) and chemoradiotherapy in the treatment of advanced laryngeal and hypopharyngeal tumors remains controversial. Aiming to analyze clinical and functionalExpand
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Further contributions towards the molecular analysis of NIPBL and SMC1A genes in a cohort of patients with Cornelia de Lange Syndrome
Dissertacao de Mestrado em Biologia apresentada a Faculdade de Ciencias da Universidade do Porto, 2012
Infecções cervicais profundas, casuística do serviço de otorrinolaringologia do Hospital Prof. Doutor Fernando Fonseca Deep neck infections, experience of a portuguese
Neck infections are a real clinical challenge, remaining at present an important health problem. Purpose: Statistical analysis of our experience with deep neck infections in the OtorhinolaryngologyExpand
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Otosclerose - Resultados audiométricos 5 anos após cirurgia estapédica
Objective: To evaluate the audiometric results 5 years after stapedectomy, in a series of 85 ears. Study Design: Retrospective Materials and methods: Analysis of audiometric results obtained 5 yearsExpand
Resultados clínicos de doentes referenciados a Centro Oncológico
Head and neck cancer is related to high morbidity and mortality. Early referral is particularly important. We performed a retrospective study concerning all patients referred to the head and neckExpand
Fístulas espontâneas de líquido cefalorraquidiano do ouvido médio – A propósito de um caso clínico.
The authors present the case report of a 66 years old female patient, referred to our department at Hospital Prof. Doutor Fernando Fonseca for tinnitus and hearing loss, bilateral, more intense onExpand