Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

1998
2025

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2021 1
2022 1
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Search Results

2 results

Results by year

Filters applied: . Clear all
Page 1
Mitochondrial disorders.
Zeviani M, Tiranti V, Piantadosi C. Zeviani M, et al. Medicine (Baltimore). 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. Medicine (Baltimore). 1998. PMID: 9465864 Free article. Review.
These include clinical entities defined on the basis of specific biochemical defects, and also a few autosomal dominant or recessive syndromes associated with multiple deletions or tissue-specific depletion of mtDNA. ...They range from lesions of single tissues or s …
These include clinical entities defined on the basis of specific biochemical defects, and also a few autosomal dominant or recessi
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.
Acharya A, Schrauwen I, Leal SM. Acharya A, et al. Hum Genet. 2022 Apr;141(3-4):413-430. doi: 10.1007/s00439-021-02309-9. Epub 2021 Jul 22. Hum Genet. 2022. PMID: 34291353 Free PMC article. Review.
Of genetic HI cases, 30% are syndromic and 70% are nonsyndromic. For nonsyndromic (NS) HI, 77% of the cases are due to autosomal recessive (AR) inheritance. ARNSHI is usually congenital/prelingual, severe-to-profound, affects all frequencies and is not progre …
Of genetic HI cases, 30% are syndromic and 70% are nonsyndromic. For nonsyndromic (NS) HI, 77% of the cases are due to autosomal