Detalles de la búsqueda
1.
Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets.
Mol Cell
; 78(3): 477-492.e8, 2020 05 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32386542
2.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36724785
3.
PDZ-Binding Kinase, a Novel Regulator of Vascular Remodeling in Pulmonary Arterial Hypertension.
Circulation
; 2024 Apr 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38682326
4.
Exome/Genome Sequencing in Undiagnosed Syndromes.
Annu Rev Med
; 74: 489-502, 2023 01 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-36706750
5.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35108495
6.
Single-cell methods in myeloproliferative neoplasms: old questions, new technologies.
Blood
; 141(4): 380-390, 2023 01 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-36322938
7.
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Cell Mol Life Sci
; 81(1): 153, 2024 Mar 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-38538865
8.
The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinic.
Clin Genet
; 105(1): 62-71, 2024 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37853563
9.
A randomized, double-blind study of zinpentraxin alfa in patients with myelofibrosis who were previously treated with or ineligible for ruxolitinib: Stage 2 of a phase II trial.
Haematologica
; 2024 Jan 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-38268448
10.
The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders.
J Genet Couns
; 2024 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38562053
11.
The power of Para sport: the effect of performance-focused swimming training on motor function in adolescents with cerebral palsy and high support needs (GMFCS IV) - a single-case experimental design with 30-month follow-up.
Br J Sports Med
; 2024 May 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-38729630
12.
Overcoming barriers to implementation: mapping implementation strategies in four hospital in home programs within the Veterans Health Administration.
Home Health Care Serv Q
; : 1-18, 2024 Jan 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38174378
13.
Legislative Health Notes: Preliminary Learnings From Piloting a New Policy Analysis Tool.
J Public Health Manag Pract
; 30(3): E135-E142, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38603760
14.
Quality Improvement Efforts in VA Community Living Centers Following Public Reporting of Performance.
J Aging Soc Policy
; 36(1): 118-140, 2024 Jan 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37014929
15.
Perinatal intermittent hypoxia increases early susceptibility to ANG II-induced hypertension in adult male but not in female Sprague-Dawley rats.
Am J Physiol Renal Physiol
; 324(5): F483-F493, 2023 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36951371
16.
Zinc finger protein 24-dependent transcription factor SOX9 up-regulation protects tubular epithelial cells during acute kidney injury.
Kidney Int
; 103(6): 1093-1104, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36921719
17.
Sustained activation of 12/15 lipoxygenase (12/15 LOX) contributes to impaired renal recovery post ischemic injury in male SHR compared to females.
Mol Med
; 29(1): 163, 2023 Dec 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38049738
18.
A Paucity of Data on Veterans 65 and Older and Risk of Suicide: A Systematic Review.
Am J Geriatr Psychiatry
; 31(7): 525-539, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-36494291
19.
Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
J Genet Couns
; 32(5): 993-1008, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37005744
20.
Lipopolysaccharide Pretreatment Prevents Medullary Vascular Congestion following Renal Ischemia by Limiting Early Reperfusion of the Medullary Circulation.
J Am Soc Nephrol
; 33(4): 769-785, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35115326