Detalhe da pesquisa
1.
Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling.
Int J Mol Sci
; 24(4)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835439
2.
Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.
Am J Med Genet A
; 185(3): 978-981, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33314579
3.
Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance.
Am J Med Genet A
; 188(5): 1623-1625, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35132768
4.
Fast and early mandibular osteogenetic distraction in a 24-day-old female newborn with Larsen syndrome.
J Craniofac Surg
; 25(3): e304-7, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24820731
5.
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.
Am J Med Genet A
; 158A(5): 1164-9, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22488877
6.
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance.
Am J Med Genet A
; 152A(11): 2810-5, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20949527
7.
Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: a novel epidermal nevus syndrome.
Am J Med Genet A
; 152A(1): 25-31, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20034083
8.
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Nat Genet
; 47(6): 661-7, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25915598
9.
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.
Eur J Med Genet
; 56(10): 570-6, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23994350