Detalhe da pesquisa
1.
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
Am J Med Genet A
; 188(10): 2869-2878, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899841
2.
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.
Am J Med Genet A
; 182(9): 2049-2057, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32656949
3.
Y265C DNA polymerase beta knockin mice survive past birth and accumulate base excision repair intermediate substrates.
Proc Natl Acad Sci U S A
; 109(17): 6632-7, 2012 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-22493258
4.
A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype.
Cold Spring Harb Mol Case Stud
; 6(3)2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32299812
5.
Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure.
Cold Spring Harb Mol Case Stud
; 5(6)2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31653660
6.
A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.
Clin Chem
; 52(10): 1864-70, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16887896
7.
Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused.
Development
; 132(19): 4407-17, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16155214