Detalhe da pesquisa
1.
Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.
N Engl J Med
; 385(22): 2059-2065, 2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34818480
2.
SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins.
Hum Mol Genet
; 29(24): 3882-3891, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33355670
3.
Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation.
Am J Pathol
; 190(12): 2453-2463, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32919980
4.
SARS-CoV-2 Wave Two Surveillance in East Asia and the Pacific: Longitudinal Trend Analysis.
J Med Internet Res
; 23(2): e25454, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33464207
5.
Prevalence of infertility and barriers to family building among male physicians.
Andrology
; 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38596879
6.
Prevalence of sexual dysfunction and pursuit of sexual medicine evaluation among male physicians-a survey.
Int J Impot Res
; 2024 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38245626
7.
The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation.
Clin Chim Acta
; 561: 119765, 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38852790
8.
Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex.
J Cachexia Sarcopenia Muscle
; 15(3): 1003-1015, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725372
9.
WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine Production.
Cell Mol Gastroenterol Hepatol
; 18(2): 101349, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38697357
10.
Compensated Hypospermatogenesis: Elevated Follicle-stimulating Hormone Predicts Decline in Semen Parameters Among Men With Normal Index Semen Analysis.
Urology
; 174: 99-103, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36716824
11.
Genetic deficiency of ribosomal rescue factor HBS1L causes retinal dystrophy associated with Pelota and EDF1 depletion.
bioRxiv
; 2023 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37905068
12.
Diversity in Orthopaedic Surgery Medical Device Clinical Trials: An Analysis of the Food and Drug Administration Safety and Innovation Act.
J Am Acad Orthop Surg
; 31(3): 155-165, 2023 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36525566
13.
Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex.
bioRxiv
; 2023 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37162921
14.
WNT2B Deficiency Causes Increased Susceptibility to Colitis in Mice and Impairs Intestinal Epithelial Development in Humans.
bioRxiv
; 2023 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37131772
15.
Optimizing detection of clinically significant prostate cancer through nomograms incorporating mri, clinical features, and advanced serum biomarkers in biopsy naïve men.
Prostate Cancer Prostatic Dis
; 26(3): 588-595, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36973367
16.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
medRxiv
; 2023 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38328047
17.
Trends in the Surgical Management of Thoracic Outlet Syndrome.
Hand (N Y)
; : 15589447221141479, 2022 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36544244
18.
Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model.
JCI Insight
; 7(15)2022 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35763354
19.
Comparing the severity of chronic rhinosinusitis symptoms before versus during the COVID-19 pandemic.
Laryngoscope Investig Otolaryngol
; 7(6): 1704-1711, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36544956
20.
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene.
Eur J Hum Genet
; 30(9): 1083-1087, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35768521