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1.
Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes.
J Am Soc Nephrol
; 29(1): 335-348, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29093028
2.
Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine.
Pflugers Arch
; 469(1): 91-103, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27915449
3.
The Women4Health cohort: a unique cohort to study women-specific mechanisms of cardio-metabolic regulation.
Eur Heart J Open
; 4(2): oeae012, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38532851
4.
Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders.
Audiol Res
; 13(6): 989-995, 2023 Dec 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38131811
5.
Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.
Mol Genet Genomic Med
; 11(5): e2143, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36788754
6.
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Biomedicines
; 11(3)2023 Feb 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-36979683
7.
Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort.
Biomedicines
; 11(8)2023 Jul 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-37626618
8.
Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report.
Front Pediatr
; 10: 970240, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35989994
9.
[The Regional Registry of Sudden Cardiac Death of Friuli Venezia Giulia. Protocols, best practices and results of a multidisciplinary project]. / Il Registro Regionale delle Morti Cardiache Improvvise in età giovanile del Friuli Venezia Giulia. Protocolli operativi e risultati di un progetto multidisciplinare.
G Ital Cardiol (Rome)
; 23(11): 827-835, 2022 Nov.
Artículo
en Italiano
| MEDLINE | ID: mdl-36300386
10.
Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies.
J Am Coll Cardiol
; 80(21): 1981-1994, 2022 11 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-36396199
11.
Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.
Genes (Basel)
; 12(10)2021 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34680964
12.
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.
Genes (Basel)
; 11(11)2020 10 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-33105617
13.
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss.
Hear Res
; 381: 107769, 2019 09 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31387071
14.
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.
Front Genet
; 9: 681, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30622556
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