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1.
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.
Am J Med Genet A
; 188(4): 1083-1087, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34907639
2.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Ann Hum Genet
; 84(5): 380-392, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32427345
3.
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.
Front Med (Lausanne)
; 10: 1320054, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38170106
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