Detalhe da pesquisa
1.
Cerebral folate deficiency: a treatable cause of late deterioration in epilepsy with developmental delay.
Pract Neurol
; 24(1): 56-59, 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135499
2.
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Hum Mol Genet
; 25(11): 2158-2167, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27005418
3.
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
Am J Hum Genet
; 86(3): 485-9, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20206331
4.
Genetics of gynaecological disorders.
Best Pract Res Clin Obstet Gynaecol
; 42: 100-113, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28684328
5.
Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement.
Clin Dysmorphol
; 13(3): 151-153, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15194950
6.
Structural pituitary abnormalities associated with CHARGE syndrome.
J Clin Endocrinol Metab
; 98(4): E737-43, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23526466
7.
Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.
Neuromuscul Disord
; 23(5): 391-8, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23518311
8.
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
Nat Genet
; 43(8): 776-84, 2011 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-21725307