Detalhe da pesquisa
1.
Numbers of prenatal cell-free DNA screens performed: Results of a 2022 CAP exercise.
Prenat Diagn
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38622635
2.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet
; 107(2): 352-363, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693025
3.
Proteomic investigations of human HERC2 mutants: Insights into the pathobiology of a neurodevelopmental disorder.
Biochem Biophys Res Commun
; 512(2): 421-427, 2019 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30902390
4.
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.
Hum Genomics
; 12(1): 11, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29490693
5.
Proteomic Investigations of Autism Spectrum Disorder: Past Findings, Current Challenges, and Future Prospects.
Adv Exp Med Biol
; 1118: 235-252, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30747426
6.
The accuracy of computer-based diagnostic tools for the identification of concurrent genetic disorders.
Am J Med Genet A
; 176(12): 2704-2709, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30475443
7.
A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.
Am J Med Genet A
; 173(9): 2478-2484, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28691782
8.
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
Am J Hum Genet
; 91(6): 1128-34, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23217328
9.
Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.
Ann Neurol
; 74(1): 128-39, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23821540
10.
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
Ann Neurol
; 72(3): 433-41, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23034915
11.
Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.
Front Neurol
; 14: 1261125, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38033781
12.
Metabolomic biomarkers in autism: identification of complex dysregulations of cellular bioenergetics.
Front Psychiatry
; 14: 1249578, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37928922
13.
The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.
Biochem Biophys Res Commun
; 426(2): 286-8, 2012 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-22943850
14.
A picture is worth a thousand words: A proposal to incorporate video into the evaluation of adults with intellectual or developmental disability living outside the home.
Front Public Health
; 10: 887714, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36091544
15.
Climate Change and Medical Education: An Integrative Model.
Acad Med
; 97(2): 188-192, 2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34432714
16.
Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.
Neurogenetics
; 11(2): 261-5, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20162437
17.
A Metabolomics Approach to Screening for Autism Risk in the Children's Autism Metabolome Project.
Autism Res
; 13(8): 1270-1285, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32558271
18.
Proteomic Investigations of Autism Brain Identify Known and Novel Pathogenetic Processes.
Sci Rep
; 9(1): 13118, 2019 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31511657
19.
Metabolomic analysis of obesity, metabolic syndrome, and type 2 diabetes: amino acid and acylcarnitine levels change along a spectrum of metabolic wellness.
PeerJ
; 6: e5410, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30186675
20.
Proteomic explorations of autism spectrum disorder.
Autism Res
; 10(9): 1460-1469, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28509388