Detalhe da pesquisa
1.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
2.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(7): 1330-1341, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102099
3.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
4.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
5.
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
Am J Med Genet A
; 179(4): 570-578, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30734472
6.
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(10): 1105-1113, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915380
7.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745126
8.
Effectiveness of a Novel Specimen Collection System in Reducing Blood Culture Contamination Rates.
J Emerg Nurs
; 44(6): 570-575, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29685676
9.
Does Medical Staffing Influence Perceived Safety? An International Survey on Medical Crew Models in Helicopter Emergency Medical Services.
Air Med J
; 37(1): 29-36, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29332773
10.
The variable nature of convection in the tropics and subtropics: A legacy of 16 years of the Tropical Rainfall Measuring Mission satellite.
Rev Geophys
; 53(3): 994-1021, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27668295
11.
Unconventional Diagnosis Based on Somatic Findings through Germ Line Whole-Exome Sequencing.
Clin Chem
; 66(1): 48-51, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32609848
12.
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
BMC Med Genet
; 16: 102, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26542245
13.
Genetics of familial hypercholesterolemia.
Curr Atheroscler Rep
; 17(4): 491, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712136
14.
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
Am J Med Genet A
; 167A(1): 95-102, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25348728
15.
Sky-High Safety? A Qualitative Study of Physicians' Experiences of Patient Safety in Norwegian Helicopter Emergency Services.
J Patient Saf
; 20(1): 1-6, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883061
16.
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders.
J Mol Diagn
; 25(7): 524-531, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37088140
17.
A Climatology of Extreme Convective Storms in Tropical and Subtropical East Asia and Their Ingredients for Heavy Rainfall as Seen by TRMM.
J Geophys Res Atmos
; 127(24): e2022JD036863, 2022 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37033369
18.
Extreme values of maternal serum analytes in second trimester screening: looking beyond trisomy and NTD's.
J Genet Couns
; 20(4): 396-403, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21505920
19.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Eur J Hum Genet
; 28(10): 1422-1431, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483341
20.
Subtropical South American Hailstorm Characteristics and Environments.
Mon Weather Rev
; 147(12)2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32440028