Pablo Lapunzina
0000-0002-6324-4825
10 papers found
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The Human Phenotype Ontology in 2024: phenotypes around the world
Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature
Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature
Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension
Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease
The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders
Radiological Findings in Multidetector Computed Tomography (MDCT) of Hereditary and Sporadic Pulmonary Veno-Occlusive Disease: Certainties and Uncertainties
Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients
A new variant in PHKA2 is associated with glycogen storage disease type IXa
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