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1.
MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
BMC Med Genomics
; 17(1): 32, 2024 Jan 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-38254107
2.
A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.
Mol Genet Genomic Med
; 11(3): e2103, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36373990
3.
Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.
BMC Med Genomics
; 15(1): 241, 2022 11 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-36401330
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