I. Gaspar

Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration.

J. Car, H. Schunkert, S. Yamashita, 2016, Atherosclerosis. Supplements.

Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action.

C. Aguilar-Salinas, G. Mensah, G. Watts, 2020, JAMA cardiology.

Familial hypercholesterolaemia: a global call to arms

J. Car, H. Schunkert, C. Aguilar-Salinas, 2015 .

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

G. Francis, R. Hegele, M. Reijman, 2022, The Lancet.

Variable expression and penetrance in Portuguese families with Familial Hypercholesterolemia with mild phenotype.

A. Gaspar, I. Gaspar, 2019, Atherosclerosis. Supplements.

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

A. R. Fernandes, H. Madeira, Susana Santos, 2012, BMC Medical Genetics.

Do-not-resuscitate and treatment limitation decisions - Six years of experience from a Portuguese General Intensive Care Unit.

E. Carmo, I. Gaspar, N. Monteiro, 2019, Revista da Associacao Medica Brasileira.

Molecular diagnosis of familial hypercholesterolemia: an important tool for cardiovascular risk stratification.

M. Bourbon, A. Medeiros, V. Francisco, 2010, Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology.

Long‐term follow‐up in Stuve–Wiedemann syndrome: A clinical report

R. Hennekam, N. Dagoneau, P. Cabral, 2008, American journal of medical genetics. Part A.

Outcomes of patients on second‐ and third‐line ART enrolled in ART adherence clubs in Maputo, Mozambique

I. Ciglenecki, A. G. Gutierrez Zamudio, L. Molfino, 2020, Tropical medicine & international health : TM & IH.

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

Paul Coucke, Marjolijn Renard, Bart Loeys, 2013, International journal of cardiology.

Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas

A. Brehm, M. Brito, M. Boavida, 2004, Human mutation.

The Reality of Critical Cancer Patients in a Polyvalent Intensive Care Unit

T. Tomás, E. Carmo, M. Neves, 2019, Cureus.

Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice

C. Januário, P. Maciel, A. Sousa, 2003, European Journal of Human Genetics.

The deletions of 22q11--the Portuguese experience.

M. Lourenço, M. Soares, I. Gaspar, 1999, Genetic counseling.

Natural history of Brugada syndrome in a patient with congenital heart disease.

D. Cavaco, P. Adragao, R. Anjos, 2015, Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology.