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1.
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.
J Med Genet
; 61(1): 47-56, 2023 Dec 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37495270
2.
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
Hum Genet
; 142(6): 773-783, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37076692
3.
Delayed TME Surgery in a Watch-and-Wait Strategy After Neoadjuvant Chemoradiotherapy for Rectal Cancer: An Analysis of Hospital Costs and Surgical and Oncological Outcomes.
Dis Colon Rectum
; 66(5): 671-680, 2023 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34856587
4.
Papua New Guinean Genomes Reveal the Complex Settlement of North Sahul.
Mol Biol Evol
; 38(11): 5107-5121, 2021 10 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-34383935
5.
Global Overview of Response Rates in Patient and Health Care Professional Surveys in Surgery: A Systematic Review.
Ann Surg
; 275(1): e75-e81, 2022 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32649458
6.
Prognostic importance of lymph node count and ratio in rectal cancer after neoadjuvant chemoradiotherapy: Results from a cross-sectional study.
J Surg Oncol
; 124(3): 367-377, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-33988882
7.
Ecological Momentary Assessment: A Field Evaluation of Subjective Ratings of Speech in Noise.
Ear Hear
; 42(6): 1770-1781, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34010249
8.
Surveys in Surgical Education: A Systematic Review and Reporting Guideline.
Eur Surg Res
; 62(2): 61-67, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33951638
9.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30825406
10.
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Int J Cancer
; 144(8): 1962-1974, 2019 04 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30303537
11.
QuantumClone: clonal assessment of functional mutations in cancer based on a genotype-aware method for clonal reconstruction.
Bioinformatics
; 34(11): 1808-1816, 2018 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29342233
12.
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.
Genet Med
; 20(2): 269-274, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28771243
13.
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
J Med Genet
; 54(12): 830-835, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29074562
14.
Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse.
PLoS Biol
; 12(9): e1001952, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25248098
15.
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.
J Med Genet
; 51(2): 137-42, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24319291
16.
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
PLoS Genet
; 8(8): e1002896, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22927827
17.
Eyes on crowding: crowding is preserved when responding by eye and similarly affects identity and position accuracy.
J Vis
; 15(2): 21, 2015 Feb 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-25686624
18.
Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels.
Nat Commun
; 15(1): 3352, 2024 Apr 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38688933
19.
Characterisation of gut microbiota composition in patients with axial spondyloarthritis and its modulation by TNF inhibitor treatment.
RMD Open
; 9(1)2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36963782
20.
Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.
Nat Genet
; 55(4): 607-618, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36928603