Detalhe da pesquisa
1.
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.
Nature;
577(7788): 109-114, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31827280
2.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet;
108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33596411
3.
Sirenomelia: An anatomical assessment and genetic sex determination of two cases.
J Anat;
244(6): 1093-1101, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38267217
4.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr;
24(1): 37, 2024 Jan 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38216926
5.
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.
Am J Hum Genet;
101(2): 206-217, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28735859
6.
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Am J Hum Genet;
100(1): 91-104, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27939640
7.
Using Public Cost Information During Low Back Pain Visits: A Qualitative Study.
Ann Intern Med;
170(9_Suppl): S93-S102, 2019 05 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31060060
8.
Bridging the gap in genetics: a progressive model for primary to specialist care.
BMC Med Educ;
19(1): 195, 2019 Jun 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31185964
9.
Parents' Understanding of Genetics and Heritability.
J Genet Couns;
26(3): 541-547, 2017 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27747461
10.
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Mol Genet Metab;
116(3): 146-51, 2015 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26361991
11.
Temporal characterization of protein production levels from baculovirus vectors coding for GFP and RFP genes under non-conventional promoter control.
Biotechnol Bioeng;
112(9): 1822-31, 2015 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25850946
12.
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Mol Genet Metab;
111(1): 16-25, 2014 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24268530
13.
Perspectives from the Inaugural "Spinal CSF Leak: Bridging the Gap" Conference: A Convergence of Clinical and Patient Expertise.
AJNR Am J Neuroradiol;
2024 May 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38697790
14.
Pseudo-outbreak of vancomycin-resistant-enterococcus (VRE) Colonization in a neonatal intensive care unit using spectra VRE surveillance medium.
J Clin Microbiol;
51(3): 810-3, 2013 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23254135
15.
Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes.
Can Fam Physician;
59(1): e39-47, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23341678
16.
SAMHD1 Mutations Are Also Responsible for Aicardi-Goutières in the Cree Population.
Can J Neurol Sci;
44(6): 749-751, 2017 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28851465
17.
A grounded theory study to identify caregiving phases and support needs across the Alzheimer's disease trajectory.
Disabil Rehabil;
44(7): 1050-1059, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32687722
18.
Implementation of Telehealth Services in Rural Schools: A Qualitative Assessment.
J Sch Health;
92(1): 71-78, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34806199
19.
Microglial Inflammation and Cognitive Dysfunction in Comorbid Rat Models of Striatal Ischemic Stroke and Alzheimer's Disease: Effects of Antioxidant Catalase-SKL on Behavioral and Cellular Pathology.
Neuroscience;
487: 47-65, 2022 04 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35124164
20.
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.
BMJ Open;
12(2): e055664, 2022 Feb 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35193919