Detalhe da pesquisa
1.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33961779
2.
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Am J Hum Genet
; 103(5): 752-768, 2018 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30388402
3.
Defining the clinical phenotype of Saul-Wilson syndrome.
Genet Med
; 22(5): 857-866, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31949312
4.
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Am J Hum Genet
; 92(1): 137-43, 2013 Jan 10.
Artigo
Inglês
| MEDLINE | ID: mdl-23273567
5.
Mutations in ECEL1 cause distal arthrogryposis type 5D.
Am J Hum Genet
; 92(1): 150-6, 2013 Jan 10.
Artigo
Inglês
| MEDLINE | ID: mdl-23261301
6.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Nat Genet
; 49(1): 36-45, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27841880
7.
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.
Eur J Hum Genet
; 22(4): 464-70, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23963300
8.
Management of deformational plagiocephaly: repositioning versus orthotic therapy.
J Pediatr
; 146(2): 258-62, 2005 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-15689920
9.
Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case.
Am J Med Genet A
; 120A(3): 400-5, 2003 Jul 30.
Artigo
Inglês
| MEDLINE | ID: mdl-12838563