Detalhe da pesquisa
1.
FGF12 copy number variant associated with epileptic encephalopathy.
Clin Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38715525
2.
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
Clin Genet
; 103(2): 167-178, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36250278
3.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Am J Hum Genet
; 105(3): 509-525, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422817
4.
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Hum Mol Genet
; 27(4): 691-705, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300972
5.
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Hum Genet
; 138(11-12): 1409-1417, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31748968
6.
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Brain
; 141(6): 1703-1718, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29668857
7.
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
Am J Med Genet A
; 176(12): 2623-2629, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30151950
8.
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
Am J Med Genet A
; 176(7): 1549-1558, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30160831
9.
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Hum Mol Genet
; 27(7): 1310, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29447355
10.
Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
Clin Genet
; 96(2): 183-185, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31236915
11.
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Cells
; 12(10)2023 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37408271
12.
Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant.
J AAPOS
; 25(6): 370-373, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34628026
13.
Extracellular circular RNA profiles in plasma and urine of healthy, male college athletes.
Sci Data
; 8(1): 276, 2021 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34711851
14.
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
Neurol Genet
; 6(4): e468, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32754643
15.
Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers.
Front Aging Neurosci
; 10: 155, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29896098
16.
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
Semin Pediatr Neurol
; 26: 28-32, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961512
17.
Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy.
F1000Res
; 6: 1636, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29034082
18.
Total Extracellular Small RNA Profiles from Plasma, Saliva, and Urine of Healthy Subjects.
Sci Rep
; 7: 44061, 2017 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28303895
19.
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.
F1000Res
; 6: 553, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28663785
20.
Exploring genome-wide DNA methylation patterns in Aicardi syndrome.
Epigenomics
; 9(11): 1373-1386, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28967789