Detalhe da pesquisa
1.
Mental health professionals and telehealth in a rural setting: a cross sectional survey.
BMC Health Serv Res
; 23(1): 200, 2023 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849933
2.
Phenotypic features in MECP2 duplication syndrome: Effects of age.
Am J Med Genet A
; 185(2): 362-369, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170557
3.
The development of highly potent and selective small molecule correctors of Z α1-antitrypsin misfolding.
Bioorg Med Chem Lett
; 41: 127973, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33753261
4.
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Clin Genet
; 95(5): 575-581, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788845
5.
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Hum Mutat
; 37(8): 737-44, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120253
6.
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Mol Genet Genomic Med
; 10(5): e1917, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35318820
7.
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study.
J Neurodev Disord
; 14(1): 31, 2022 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35568815
8.
Development of a small molecule that corrects misfolding and increases secretion of Z α1 -antitrypsin.
EMBO Mol Med
; 13(3): e13167, 2021 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512066
9.
Longevity in Rett syndrome: analysis of the North American Database.
J Pediatr
; 156(1): 135-138.e1, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19772971
10.
Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.
Mol Genet Genomic Med
; 8(3): e1121, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31903733
11.
Rett syndrome: North American database.
J Child Neurol
; 22(12): 1338-41, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18174548
12.
Assessment of Caregiver Inventory for Rett Syndrome.
J Autism Dev Disord
; 47(4): 1102-1112, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132121
13.
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.
Pediatr Neurol
; 70: 20-25, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28347601
14.
Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors.
Pediatr Neurol
; 58: 67-74, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26995066
15.
Importance of genetic testing in global health during the evaluation of familial microcephaly.
Clin Case Rep
; 4(10): 968-971, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27761248
16.
Discovery and Characterization of a Class of Pyrazole Inhibitors of Bacterial Undecaprenyl Pyrophosphate Synthase.
J Med Chem
; 59(15): 7299-304, 2016 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27379833
17.
Intracerebral transplantation of porcine choroid plexus provides structural and functional neuroprotection in a rodent model of stroke.
Stroke
; 35(9): 2206-10, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15284450
18.
Neuroprotection by encapsulated choroid plexus in a rodent model of Huntington's disease.
Neuroreport
; 15(16): 2521-5, 2004 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15538187
19.
Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder.
Pediatr Neurol
; 42(3): 223-6, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20159435
20.
Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male.
Am J Med Genet A
; 123A(1): 64-7, 2003 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-14556248