Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials.
Br J Dermatol
; 190(2): 216-225, 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37877514
3.
Perspectives of adolescents with neurofibromatosis 1 and cutaneous neurofibromas: Implications for clinical trials.
Clin Trials
; 21(1): 67-72, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37269078
4.
The Molecular Frequency, Conservation and Role of Reactive Cysteines in Plant Lipid Metabolism.
Plant Cell Physiol
; 2023 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38113384
5.
Medical and psychosocial outcomes of state-funded population genomic screening.
Clin Genet
; 104(4): 434-442, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37340305
6.
Parent perspectives on disclosing a pediatric neurofibromatosis type 1 diagnosis.
J Genet Couns
; 32(5): 1088-1101, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183616
7.
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Genet Med
; 24(4): 851-861, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930662
8.
Conceptualizing, Contextualizing, and Operationalizing Race in Quantitative Health Sciences Research.
Ann Fam Med
; 20(2): 157-163, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35045967
9.
As the number falls, alternatives to the Hagberg-Perten falling number method: A review.
Compr Rev Food Sci Food Saf
; 21(3): 2105-2117, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35411636
10.
Late-maturity α-amylase (LMA): exploring the underlying mechanisms and end-use quality effects in wheat.
Planta
; 255(1): 2, 2021 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837530
11.
A state-based approach to genomics for rare disease and population screening.
Genet Med
; 23(4): 777-781, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33244164
12.
Seedling Chloroplast Responses Induced by N-Linolenoylethanolamine Require Intact G-Protein Complexes.
Plant Physiol
; 184(1): 459-477, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32665332
13.
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Hum Mutat
; 41(3): 641-654, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31769566
14.
Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors.
J Genet Couns
; 29(5): 692-714, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32602153
15.
Recruiting diversity where it exists: The Alabama Genomic Health Initiative.
J Genet Couns
; 29(3): 471-478, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220047
16.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
17.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
18.
Clinicopathologic and 11C-Pittsburgh compound B implications of Thal amyloid phase across the Alzheimer's disease spectrum.
Brain
; 138(Pt 5): 1370-81, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25805643
19.
Differential clinicopathologic and genetic features of late-onset amnestic dementias.
Acta Neuropathol
; 128(3): 411-21, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24899141
20.
AGD1, a class 1 ARF-GAP, acts in common signaling pathways with phosphoinositide metabolism and the actin cytoskeleton in controlling Arabidopsis root hair polarity.
Plant J
; 69(6): 1064-76, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22098134