Detalhe da pesquisa
1.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Genet Med
; 25(7): 100839, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057675
2.
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Proc Natl Acad Sci U S A
; 121(12): e2317601121, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466850
3.
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
Am J Med Genet A
; 185(7): 2136-2149, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33783941
4.
Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.
Cleft Palate Craniofac J
; 54(6): 739-748, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27356087
5.
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.
Am J Med Genet A
; 155A(7): 1646-53, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21671386
6.
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Mol Genet Genomic Med
; 9(10): e1809, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34519438
7.
Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.
Am J Med Genet A
; 164A(1): 259-63, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24259484
8.
Partial craniofacial duplication: a review of the literature and case report.
J Craniomaxillofac Surg
; 42(4): 290-6, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23969147
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
em Inglês
| MEDLINE | ID: mdl-12838563
10.
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers.
Am J Med Genet A
; 118A(3): 267-73, 2003 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-12673658