Detalles de la búsqueda
1.
NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.
BMC Genomics
; 23(1): 849, 2022 Dec 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-36550402
2.
One-Drop Serum Screening Test for Anal Cancer in Men via Infrared Attenuated Total Reflection Spectroscopy.
Anal Chem
; 94(44): 15250-15260, 2022 11 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36197692
3.
The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review.
Hum Genomics
; 15(1): 49, 2021 08 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34348791
4.
Novel ribosomal protein L26 variant and modeling in a patient with Diamond-Blackfan anemia: Case report.
Pediatr Blood Cancer
; : e30368, 2023 Apr 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-37073646
5.
Structure and evolution of the filaggrin gene repeated region in primates.
BMC Evol Biol
; 17(1): 10, 2017 01 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28077068
6.
Prehipertension: influence of psychological stress in adolescents.
Invest Clin
; 58(1): 34-43, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-29939001
7.
Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description.
Heliyon
; 10(6): e28024, 2024 Mar 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38545186
8.
HLA allelic diversity in the Waorani population of Ecuador: Its significance to their ancestry and migration.
Hum Immunol
; 85(3): 110771, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38443236
9.
AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings.
Front Neurol
; 15: 1376643, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38689878
10.
Development and evaluation of ciprofloxacin local controlled release materials based on molecularly imprinted polymers.
Eur J Pharm Biopharm
; 195: 114178, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38195049
11.
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Front Public Health
; 11: 1248260, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37822540
12.
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Front Public Health
; 11: 1079601, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36935719
13.
[Community-acquired bacteremia in adult patients attending the emergency service of a teaching hospital]. / Bacteriemias de origen comunitario en pacientes adultos que acuden al servicio de urgencias de un hospital universitario.
Rev Argent Microbiol
; 44(1): 10-5, 2012.
Artículo
en Español
| MEDLINE | ID: mdl-22610291
14.
COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report.
Front Surg
; 9: 986372, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36338653
15.
Novel Variation in Acyl-CoA Synthetase Long Chain Family Member 6 (ACSL6) Results in Protein Structural Modification and Multiple Non-Related Neoplasia in a 46-Year-Old: Case Report.
Front Oncol
; 12: 899579, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35756649
16.
Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report.
Front Pediatr
; 10: 975947, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36467484
17.
Design and application of molecularly imprinted polymers for adsorption and environmental assessment of anti-inflammatory drugs in wastewater samples.
Environ Sci Pollut Res Int
; 29(30): 45885-45902, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35149949
18.
Risk HLA alleles in South America and potential new epitopes for SARS-CoV2.
Hum Immunol
; 82(8): 561-567, 2021 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-33972137
19.
Tetrahydroisoquinolines as dopaminergic ligands: 1-Butyl-7-chloro-6-hydroxy-tetrahydroisoquinoline, a new compound with antidepressant-like activity in mice.
Bioorg Med Chem
; 17(14): 4968-80, 2009 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-19540762
20.
Synthesis and pharmacological evaluation of several ring-contracted amantadine analogs.
Bioorg Med Chem
; 16(23): 9925-36, 2008 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-18954995