Search details
1.
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Hum Genet
; 143(5): 721-734, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38691166
2.
Genomic analysis of inherited hearing loss in the Palestinian population.
Proc Natl Acad Sci U S A
; 117(33): 20070-20076, 2020 08 18.
Article
in English
| MEDLINE | ID: mdl-32747562
3.
A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss.
Hum Mol Genet
; 32(14): 2265-2268, 2023 07 04.
Article
in English
| MEDLINE | ID: mdl-37074134
4.
Using multi-scale genomics to associate poorly annotated genes with rare diseases.
Genome Med
; 16(1): 4, 2024 Jan 04.
Article
in English
| MEDLINE | ID: mdl-38178268
5.
Sorting Nexin 10 as a Key Regulator of Membrane Trafficking in Bone-Resorbing Osteoclasts: Lessons Learned From Osteopetrosis.
Front Cell Dev Biol
; 9: 671210, 2021.
Article
in English
| MEDLINE | ID: mdl-34095139
6.
Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
Cold Spring Harb Mol Case Stud
; 6(5)2020 10.
Article
in English
| MEDLINE | ID: mdl-33028645
Results
1 -
6
de 6
1
Next >
>>