Detalhe da pesquisa
1.
Cost-Effectiveness of Unselected Multigene Germline and Somatic Genetic Testing for Epithelial Ovarian Cancer.
J Natl Compr Canc Netw
; 22(2D)2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38866043
2.
Patient decision aids in mainstreaming genetic testing for women with ovarian cancer: A prospective cohort study.
BJOG
; 131(6): 848-857, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37752678
3.
Probing excited state 1Hα chemical shifts in intrinsically disordered proteins with a triple resonance-based CEST experiment: Application to a disorder-to-order switch.
Methods
; 218: 198-209, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37607621
4.
Population assessment of the Endangered Kashmir Gray Langur (Semnopithecus ajax, Pocock 1928) using the double-observer method.
Am J Primatol
; 86(6): e23618, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38482954
5.
Range restricted old and young lineages show the southern Western Ghats to be both a museum and a cradle of diversity for woody plants.
Proc Biol Sci
; 290(1997): 20222513, 2023 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37122248
6.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Genome Res
; 29(7): 1057-1066, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160375
7.
Expanding the phenotype of TAB2 variants and literature review.
Am J Med Genet A
; 188(11): 3331-3342, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35971781
8.
Mortality Prediction in the ICU: The Daunting Task of Predicting the Unpredictable.
Indian J Crit Care Med
; 26(1): 13-14, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35110837
9.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Am J Hum Genet
; 103(1): 3-18, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909963
10.
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
Brain
; 143(8): 2380-2387, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32658972
11.
Characterizing Post-Translational Modifications and Their Effects on Protein Conformation Using NMR Spectroscopy.
Biochemistry
; 59(1): 57-73, 2020 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31682116
12.
Detection of Gap and Modulations: Auditory Temporal Resolution Deficits in Adults Who Stutter.
Folia Phoniatr Logop
; 72(1): 13-21, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31132766
13.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Nature
; 493(7432): 406-10, 2013 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23242139
14.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436146
15.
Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.
Hum Mutat
; 38(1): 78-85, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27650164
16.
Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers.
Clin Endocrinol (Oxf)
; 86(2): 286-296, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27678251
17.
High voltage generation from lead-free magnetoelectric coaxial nanotube arrays and their applications in nano energy harvesters.
Nanotechnology
; 28(5): 055402, 2017 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28008890
18.
Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations.
J Med Genet
; 53(7): 472-80, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26993268
19.
Gene-gene interactions in breast cancer susceptibility.
Hum Mol Genet
; 21(4): 958-62, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072393
20.
AIP mutation in pituitary adenomas in the 18th century and today.
N Engl J Med
; 364(1): 43-50, 2011 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-21208107