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The pathogenicity of variant c.597dup in SLC19A3 and treatability of its phenotype remain unconfirmed. [PDF]
Finsterer J, Scorza FA.
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[Applicability of the London Classification to Characterize Defecation Disorders: a Retrospective Study in a Tertiary Care Center in Argentina]. [PDF]
Santana M +7 more
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ORIGINALS. Fibrosis quística: Mutaciones y fenotipos
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, 2021
Resumen Introduccion y objetivos TPM1 es uno de los principales genes en la miocardiopatia hipertrofica (MCH). La informacion clinica sobre portadores es relativamente escasa, lo cual limita la interpretacion de los estudios geneticos.
Arsonval Lamounier Junior +33 more
semanticscholar +1 more source
Resumen Introduccion y objetivos TPM1 es uno de los principales genes en la miocardiopatia hipertrofica (MCH). La informacion clinica sobre portadores es relativamente escasa, lo cual limita la interpretacion de los estudios geneticos.
Arsonval Lamounier Junior +33 more
semanticscholar +1 more source
Dislipemias familiares: relación genotipo-fenotipo
Endocrinología, Diabetes y Nutrición, 2023Q4
Rosa M. Sánchez-Hernández +1 more
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Revista Española de Cardiología, 2018
Resumen Introduccion y objetivos La displasia valvular cardiaca ligada al cromosoma X es una cardiopatia congenita rara especifica del sexo masculino y caracterizada principalmente por una degeneracion mixomatosa de las valvulas auriculoventriculares con
L. Fernández +19 more
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Resumen Introduccion y objetivos La displasia valvular cardiaca ligada al cromosoma X es una cardiopatia congenita rara especifica del sexo masculino y caracterizada principalmente por una degeneracion mixomatosa de las valvulas auriculoventriculares con
L. Fernández +19 more
semanticscholar +1 more source
Archivos de Bronconeumología, 2010
Chronic obstructive pulmonary disease (COPD) is a complex, multifaceted disease. The clinical presentation is highly heterogeneous and consequently, within what is known today as COPD, there may be some groups (phenotypes) of patients who share clinical and/or biological characteristics but who have distinct prognoses and/or who require different ...
Patricia Sobradillo +2 more
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Chronic obstructive pulmonary disease (COPD) is a complex, multifaceted disease. The clinical presentation is highly heterogeneous and consequently, within what is known today as COPD, there may be some groups (phenotypes) of patients who share clinical and/or biological characteristics but who have distinct prognoses and/or who require different ...
Patricia Sobradillo +2 more
openaire +1 more source

