Detalhe da pesquisa
1.
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
Am J Med Genet A
; 182(1): 257-267, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31769173
2.
A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome.
Epilepsy Behav
; 81: 55-61, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29477837
3.
Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.
Int J Mol Sci
; 17(12)2016 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27941670
4.
A Comparison of Wearable Tonometry, Photoplethysmography, and Electrocardiography for Cuffless Measurement of Blood Pressure in an Ambulatory Setting.
IEEE J Biomed Health Inform
; 26(7): 2864-2875, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35201992
5.
Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders.
Eur J Med Genet
; 62(1): 15-20, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29729439
6.
Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.
Sci Rep
; 9(1): 15315, 2019 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31653898
7.
Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders.
Neurol Genet
; 5(6): e378, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32042908
8.
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
J Neurodev Disord
; 11(1): 3, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30732576
9.
Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.
Biomed Res Int
; 2016: 3284534, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27975050