Claudia Falcao Reis

University of Minho

Portugal

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Articles (10)

Year:

2025

Year:

2024

Year:

2024

Year:

2024

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2023

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2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Collaborators (3)

Francisco Araújo

Head of Internal Medicine Department

Centro Hospitalar Lisboa Norte

PORTUGAL

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Mafalda Bourbon

invited associated professor

Faculty of Medicine, University of Lisbon

PORTUGAL

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Luisa Mota-Vieira

Universidade de Aveiro

PORTUGAL

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Claudia Falcao Reis

Research Interests

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Articles (10)

Renal Tubular Dysgenesis: Broadening the Discussion of the Etiological Spectrum

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype

Acute Lymphoblastic Leukemia in a Pediatric Patient With Turnpenny-Fry Syndrome

A Case of Cushing's Disease and a RET Pathogenic Variant: Exploring Possible Rare Associations

A child with <scp>CARD14</scp>‐associated papulosquamous eruption (<scp>CAPE</scp>) successfully treated with ustekinumab

Inconclusive results in genetic testing: explaining uncertainty

Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report

Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk

Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case Description

Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center

Collaborators (3)

Francisco Araújo

Mafalda Bourbon

Luisa Mota-Vieira

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