Detalhe da pesquisa
1.
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
Hum Genet
; 143(3): 279-291, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38451290
2.
A Randomized Trial of Mesenchymal Stromal Cells for Moderate to Severe Acute Respiratory Distress Syndrome from COVID-19.
Am J Respir Crit Care Med
; 207(3): 261-270, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36099435
3.
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Hum Mol Genet
; 29(21): 3516-3531, 2021 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33105479
4.
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
J Transl Med
; 21(1): 410, 2023 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353797
5.
Autoimmune Disease and Breast Implants: Systematic Review of Outcomes.
Ann Plast Surg
; 90(4): 385-388, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34117137
6.
Mesenchymal stromal cell therapy for acute respiratory distress syndrome due to coronavirus disease 2019.
Cytotherapy
; 24(8): 835-840, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35649958
7.
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
J Neurogenet
; 35(2): 74-83, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970744
8.
Visualization of flow diverter stent wall apposition during intracranial aneurysm treatment using a virtually diluted cone beam CT technique (Vessel ASSIST).
Neuroradiology
; 63(1): 125-131, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32740710
9.
Exploring and reconciling discordance between documented and preferred resuscitation preferences for hospitalized patients: a quality improvement study.
Can J Anaesth
; 68(4): 530-540, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33452662
10.
Adenosine-induced transient asystole to control intraoperative rupture of intracranial aneurysms: institutional experience and systematic review of the literature.
Br J Neurosurg
; 35(1): 98-102, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32558601
11.
Study 275: Updated Expanded Access Program for Remestemcel-L in Steroid-Refractory Acute Graft-versus-Host Disease in Children.
Biol Blood Marrow Transplant
; 26(5): 855-864, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32044400
12.
A Phase 3 Randomized Study of Remestemcel-L versus Placebo Added to Second-Line Therapy in Patients with Steroid-Refractory Acute Graft-versus-Host Disease.
Biol Blood Marrow Transplant
; 26(5): 835-844, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31505228
13.
A Phase 3, Single-Arm, Prospective Study of Remestemcel-L, Ex Vivo Culture-Expanded Adult Human Mesenchymal Stromal Cells for the Treatment of Pediatric Patients Who Failed to Respond to Steroid Treatment for Acute Graft-versus-Host Disease.
Biol Blood Marrow Transplant
; 26(5): 845-854, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32018062
14.
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Am J Hum Genet
; 100(1): 128-137, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017372
15.
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
Am J Med Genet A
; 182(5): 1278-1283, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32150337
16.
Community pharmacist collaboration with a primary care clinic to improve diabetes care.
J Am Pharm Assoc (2003)
; 60(3S): S84-S90, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32192944
17.
H2O2 oxidation of cysteine residues in c-Jun N-terminal kinase 2 (JNK2) contributes to redox regulation in human articular chondrocytes.
J Biol Chem
; 293(42): 16376-16389, 2018 10 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190325
18.
Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
J Transl Med
; 22(1): 400, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38689323
19.
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Genet Med
; 21(8): 1772-1780, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30700791
20.
Ex Vivo Mesenchymal Precursor Cell-Expanded Cord Blood Transplantation after Reduced-Intensity Conditioning Regimens Improves Time to Neutrophil Recovery.
Biol Blood Marrow Transplant
; 23(8): 1359-1366, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28506845