Detalhe da pesquisa
1.
An inherited life-threatening arrhythmia model established by screening randomly mutagenized mice.
Proc Natl Acad Sci U S A
; 121(17): e2218204121, 2024 Apr 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38621141
2.
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Hum Mol Genet
; 31(21): 3597-3612, 2022 10 28.
Artigo
Inglês
| MEDLINE | ID: mdl-35147173
3.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Am J Hum Genet
; 108(10): 2017-2023, 2021 10 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34587489
4.
Noninvasive graft monitoring using donor-derived cell-free DNA in Japanese liver transplantation.
Hepatol Res
; 54(3): 300-314, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-37850337
5.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Clin Genet
; 103(3): 288-300, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36353900
6.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35471564
7.
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Am J Hum Genet
; 103(1): 144-153, 2018 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29961568
8.
Inhibition of Very Long Chain Fatty Acids Synthesis Mediates PI3P Homeostasis at Endosomal Compartments.
Int J Mol Sci
; 22(16)2021 Aug 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34445155
9.
The Golgi entry core compartment functions as a COPII-independent scaffold for ER-to-Golgi transport in plant cells.
J Cell Sci
; 131(2)2018 01 29.
Artigo
Inglês
| MEDLINE | ID: mdl-28839076
10.
When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.
Clin Genet
; 97(6): 835-843, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32162313
11.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Ann Neurol
; 86(2): 225-240, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31187503
12.
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Brain
; 142(3): 542-559, 2019 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30668673
13.
Pulmonary perfusion by chest digital dynamic radiography: Comparison between breath-holding and deep-breathing acquisition.
J Appl Clin Med Phys
; 21(11): 247-255, 2020 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-33104288
14.
Predictors of Recurrence after Catheter Ablation of Paroxysmal Atrial Fibrillation in Different Follow-Up Periods.
Medicina (Kaunas)
; 56(9)2020 Sep 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32932837
15.
Synaptotagmin-Associated Endoplasmic Reticulum-Plasma Membrane Contact Sites Are Localized to Immobile ER Tubules.
Plant Physiol
; 178(2): 641-653, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30126867
16.
NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.
Am J Med Genet A
; 179(5): 837-841, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30773799
17.
Steroid resistance of airway type 2 innate lymphoid cells from patients with severe asthma: The role of thymic stromal lymphopoietin.
J Allergy Clin Immunol
; 141(1): 257-268.e6, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28433687
18.
Biochemical features of genetic Creutzfeldt-Jakob disease with valine-to-isoleucine substitution at codon 180 on the prion protein gene.
Biochem Biophys Res Commun
; 496(4): 1055-1061, 2018 02 19.
Artigo
Inglês
| MEDLINE | ID: mdl-29382530
19.
Hypoxia-Inducible Factor 1α Signaling Promotes Repair of the Alveolar Epithelium after Acute Lung Injury.
Am J Pathol
; 187(8): 1772-1786, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28618253
20.
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.
J Inherit Metab Dis
; 41(4): 719-729, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29560582