Detalhe da pesquisa
1.
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Nature
; 592(7852): 93-98, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33568816
2.
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
Am J Med Genet A
; 182(7): 1796-1800, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32420688
3.
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Am J Med Genet A
; 173(10): 2763-2771, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28777491
4.
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Am J Hum Genet
; 86(3): 343-52, 2010 Mar 12.
Artigo
Inglês
| MEDLINE | ID: mdl-20170900
5.
Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant.
J Pediatr Genet
; 12(2): 144-149, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-37090838
6.
Apolipoprotein E genotype and cerebral palsy.
Dev Med Child Neurol
; 52(7): 666-71, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20002130
7.
Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs.
Dis Model Mech
; 13(2)2020 01 13.
Artigo
Inglês
| MEDLINE | ID: mdl-31969342
8.
Homozygosity enhances severity in spinocerebellar ataxia type 3.
Pediatr Neurol
; 38(4): 296-9, 2008 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-18358414
9.
19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype.
Clin Case Rep
; 6(7): 1300-1307, 2018 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-29988626
10.
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.
Mol Genet Genomic Med
; 6(3): 382-392, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29529714
11.
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Nat Commun
; 8: 16077, 2017 07 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28681861
12.
Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
Metallomics
; 8(9): 981-92, 2016 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27293072
13.
Brain MRI and magnetic resonance spectroscopy findings in patients with hyperargininemia.
J Neuroimaging
; 24(2): 155-60, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-22928720
14.
Occipital encephalocele and hypoplastic thumb: a nonrandom association of malformations.
Clin Dysmorphol
; 17(4): 273-4, 2008 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-18978658
15.
Clinical features and neurologic progression of hyperargininemia.
Pediatr Neurol
; 46(6): 369-74, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22633632
16.
Mandibular hypoplasia in fibrodysplasia ossificans progressiva causing obstructive sleep apnoea with pulmonary hypertension.
Clin Dysmorphol
; 19(2): 69-72, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20190637