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1.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney Int;
104(5): 995-1007, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37598857
2.
Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.
Am J Med Genet C Semin Med Genet;
190(3): 358-376, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-36161467
3.
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney Int;
101(5): 1039-1053, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35227688
4.
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease.
Eur J Hum Genet;
31(11): 1300-1308, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36807342
5.
Preclinical Aortic Atherosclerosis in Adolescents With Chronic Disease.
J Am Heart Assoc;
11(14): e024675, 2022 07 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35861840
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