Detalhe da pesquisa
1.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36965478
2.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Genet Med
; 23(6): 1075-1085, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33580225
3.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Am J Hum Genet
; 97(1): 99-110, 2015 Jul 02.
Artigo
Inglês
| MEDLINE | ID: mdl-26119818
4.
Sequencing the nuclear genome of the extinct woolly mammoth.
Nature
; 456(7220): 387-90, 2008 Nov 20.
Artigo
Inglês
| MEDLINE | ID: mdl-19020620
5.
A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1.
Cold Spring Harb Mol Case Stud
; 2(6): a001289, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27900370
6.
Explorations to improve the completeness of exome sequencing.
BMC Med Genomics
; 9(1): 56, 2016 08 27.
Artigo
Inglês
| MEDLINE | ID: mdl-27568008
7.
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Orphanet J Rare Dis
; 11(1): 62, 2016 05 14.
Artigo
Inglês
| MEDLINE | ID: mdl-27179618