Detalhe da pesquisa
1.
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Hum Mol Genet
; 24(9): 2594-603, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25616960
2.
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
Am J Med Genet A
; 173(8): 2132-2138, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28574232
3.
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.
Am J Med Genet A
; 149A(5): 837-43, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19334086
4.
IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia.
Eur J Hum Genet
; 16(3): 328-34, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18159214
5.
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Nat Genet
; 43(1): 20-2, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21131976