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1.
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people.
Front Med (Lausanne)
; 10: 1096869, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36844206
2.
Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene.
Am J Med Genet A
; 149A(7): 1365-74, 2009 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-19514047
3.
Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G> T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 163(4): 379-382, 2019 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-30401990
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