Search details
1.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Hum Genet
; 140(7): 1011-1029, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33710394
2.
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment.
J Hum Genet
; 66(12): 1169-1175, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34226616
3.
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.
Mol Genet Genomic Med
; 10(3): e1866, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35150090
4.
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Eur J Hum Genet
; 30(1): 42-52, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34837038
5.
SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.
Genes (Basel)
; 13(5)2022 04 25.
Article
in English
| MEDLINE | ID: mdl-35627139
6.
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.
Commun Biol
; 5(1): 369, 2022 04 19.
Article
in English
| MEDLINE | ID: mdl-35440622
7.
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
Eur J Hum Genet
; 30(1): 22-33, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34135477
8.
Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders.
Mol Genet Genomic Med
; 9(12): e1703, 2021 12.
Article
in English
| MEDLINE | ID: mdl-33982443
9.
A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.
Exp Biol Med (Maywood)
; 246(13): 1524-1532, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33715530
10.
A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family.
Genes (Basel)
; 12(11)2021 11 06.
Article
in English
| MEDLINE | ID: mdl-34828371
11.
Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.
Genes (Basel)
; 12(12)2021 11 28.
Article
in English
| MEDLINE | ID: mdl-34946863
12.
Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment.
Genes (Basel)
; 11(11)2020 10 23.
Article
in English
| MEDLINE | ID: mdl-33114113
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