Detalhe da pesquisa
1.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med
; 26(5): 101075, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38251460
2.
Impact of Telemedicine on Delivery of Pediatric Inflammatory Bowel Disease Care.
J Pediatr Gastroenterol Nutr
; 77(4): 519-526, 2023 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37501225
3.
North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Statement for Telehealth.
J Pediatr Gastroenterol Nutr
; 76(5): 684-694, 2023 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36976575
4.
Equity and Inclusion in Pediatric Gastroenterology Telehealth: A Study of Demographic, Socioeconomic, and Digital Disparities.
J Pediatr Gastroenterol Nutr
; 77(3): 319-326, 2023 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37079871
5.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35027293
6.
Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1.
Am J Med Genet A
; 188(7): 2217-2225, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35384273
7.
Near complete deletion of KMT2D in a college student.
Am J Med Genet A
; 188(5): 1550-1555, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35040536
8.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(6): 1065-1074, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33547396
9.
Detection of metabolic change in glioblastoma cells after radiotherapy using hyperpolarized 13 C-MRI.
NMR Biomed
; 34(7): e4514, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33939204
10.
Examining Patients' Capacity to Use Patient Portals: Insights for Telehealth.
Med Care
; 59(12): 1067-1074, 2021 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34593709
11.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia
; 62(7): e103-e109, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34041744
12.
The 21st Century CURES Act in Pediatric Gastroenterology: Problems, Solutions, and Preliminary Guidance.
J Pediatr Gastroenterol Nutr
; 72(5): 700-703, 2021 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33720090
13.
Physician Perspectives about Telemedicine: Considering the Usability of Telemedicine in Response to Coronavirus Disease 2019.
J Pediatr Gastroenterol Nutr
; 73(1): 42-47, 2021 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33872292
14.
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hum Mutat
; 41(1): 150-168, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31448840
15.
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
J Hum Genet
; 64(6): 561-572, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-30858506
16.
Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome.
Chromosome Res
; 31(1): 1, 2023 01 19.
Artigo
Inglês
| MEDLINE | ID: mdl-36656404
17.
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.
Hum Mutat
; 39(11): 1485-1493, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30311384
18.
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
Genet Med
; 20(11): 1334-1345, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29493581
19.
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
J Hum Genet
; 63(3): 349-356, 2018 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-29279609
20.
Pasireotide is not effective in reducing the development of postoperative pancreatic fistula.
HPB (Oxford)
; 20(9): 834-840, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30060910