CHD7 Disorder GeneReviews 2022 CHARGE Syndrome StatPearls 2023
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Malattia di Niemann-Pick
The Genetic Basis Lung Involvement and Therapeutic Options in Niemann–Pick Disease- A Comprehensive Review- Biomolecules 2024 Acid Sphingomyelinase Deficiency-GeneReviews 2023 Niemann-Pick Disease Type C – […]
Le Sindromi Aritmogene Ereditarie
Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes- A Further Step Forward in Genetic Diagnosis- Biomedicines 2024 . A narrative review of inherited arrhythmogenic […]
La Sindrome di Sjögren
Sjogren’s syndrome Everything you always wanted to know about genetic and epigenetic factors -Autoimmunity Reviews-2024 Epigenetic-Mechanisms-in-Sjogren.s-Syndrome – European Medical Journal -2016
La Malattia di Creutzfeldt-Jakob familiare
Genetic Prion Disease GeneReviews 2021 Genetic aspects of human prion diseases -Frontiers in Neurology 2022
Le cardiopatie genetiche
Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy – J. Clin. Med. 2024 Approaches to Genetic Screening in Cardiomyopathies – JACC 2023 […]
Le canalopatie genetiche
Recent Insights Into Channelopathies, Phisiological Reviews 2024 Genetics and cardiac channelopathies, Genetics in Medicine 2010 Cardiac channelopathies in pediatrics- a genetic update, Eur J Pediatr. […]
Disgenesia gonadica completa 46,XY
Nonsyndromic Disorders of Testicular Development Overview – GeneReviews 2022
Maschio 46,XX
46,XX males with SRY gene traslocation-cytogenetics and molecular characterization- Journal of Rare Diseases 2024 Nonsyndromic 46,XX Testicular Disorders-Differences of Sex Development- GeneRewievs 2022
La Sindrome di Brugada
Brugada Syndrome- GeneReviews 2022 Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum Fortuitous Finding or New Genetic Connection, Genes, 2024 Brugada syndrome identification of […]