Detalhe da pesquisa
1.
Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database.
Hum Mutat
; 43(12): 1780-1794, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36251279
2.
Assessing clinical education tools for expanded carrier screening.
J Genet Couns
; 30(2): 606-615, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33135283
3.
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Brain
; 142(11): 3351-3359, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504246
4.
Evidence for a role of corticopetal, noradrenergic systems in the development of executive function.
Neurobiol Learn Mem
; 143: 94-100, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28219751
5.
Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing.
Am J Med Genet A
; 164A(5): 1094-101, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24665052
6.
SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine: Putative Role of PRRT2.
Neurol Genet
; 9(3): e200062, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057295
7.
Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants.
Children (Basel)
; 10(6)2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37371223
8.
A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.
Am J Med Genet A
; 173(7): 1979-1982, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28497657
9.
Survey of Meat Collected from Commercial Broiler Processing Plants Suggests Low Levels of Semicarbazide Can Be Created during Immersion Chilling.
J Food Prot
; 85(5): 798-802, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35146522
10.
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
Mol Genet Genomic Med
; 10(4): e1888, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35119225
11.
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
Hum Mutat
; 31(5): 588-93, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20205264
12.
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
Mol Genet Genomic Med
; 7(7): e00796, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192527
13.
The Controlled Palatal Harvest (CPH) Technique for Harvesting a Palatal Subepithelial Connective Tissue Graft.
Compend Contin Educ Dent
; 39(2): e9-e12, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388791
14.
Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1.
Clin Case Rep
; 6(12): 2358-2363, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30564329
15.
Access to care for people with special needs: role of alternative providers and practice settings.
J Calif Dent Assoc
; 33(9): 715-21, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16261908
16.
A virtual community health field project during the COVID-19 pandemic.
J Dent Educ
; 2020 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33125729
17.
Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.
J Mol Diagn
; 17(2): 107-17, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25684271
18.
Triplet repeat primed PCR simplifies testing for Huntington disease.
J Mol Diagn
; 15(2): 255-62, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23414820
19.
Implementation of a cost-effective unlabeled probe high-resolution melt assay for genotyping of Factor V Leiden.
Genet Test Mol Biomarkers
; 15(4): 207-13, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21254846
20.
Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations.
Genet Test Mol Biomarkers
; 14(2): 171-4, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20059381