Detalles de la búsqueda
1.
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.
Clin Dysmorphol;
33(2): 55-62, 2024 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38410982
2.
Schizophrenia endothelial cells exhibit higher permeability and altered angiogenesis patterns in patient-derived organoids.
Transl Psychiatry;
14(1): 53, 2024 Jan 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-38263175
3.
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
Am J Med Genet A;
194(4): e63498, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38129970
4.
Exposure to Cadmium Telluride Quantum Dots and Gene Expression Profile of Huh-7 Hepatocellular Carcinoma Cell Line.
Dose Response;
21(3): 15593258231185457, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37654727
5.
[Investigation of Ganciclovir Resistance in Cytomegalovirus Isolates by Phenotypic and Genotypic Methods]. / Sitomegalovirüs Izolatlarinda Gansiklovir Direncinin Fenotipik ve Genotipik Yöntemlerle Arastirilmasi.
Mikrobiyol Bul;
57(3): 401-418, 2023 Jul.
Artículo
en Turco
| MEDLINE | ID: mdl-37462304
6.
Circadian protein TIMELESS regulates synaptic function and memory by modulating cAMP signaling.
Cell Rep;
42(4): 112375, 2023 04 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-37043347
7.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol;
146(2): 353-368, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37119330
8.
A molecular study of pediatric pilomyxoid and pilocytic astrocytomas: Genome-wide copy number screening, retrospective analysis of clinicopathological features and long-term clinical outcome.
Front Oncol;
13: 1034292, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36860324
9.
Disruption of male fertility-critical Dcaf17 dysregulates mouse testis transcriptome.
Sci Rep;
12(1): 21456, 2022 12 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36509865
10.
Global Transcriptional Profiling of Granulosa Cells from Polycystic Ovary Syndrome Patients: Comparative Analyses of Patients with or without History of Ovarian Hyperstimulation Syndrome Reveals Distinct Biomarkers and Pathways.
J Clin Med;
11(23)2022 Nov 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-36498516
11.
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Cells;
11(19)2022 10 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36231115
12.
The evolution of BDNF is defined by strict purifying selection and prodomain spatial coevolution, but what does it mean for human brain disease?
Transl Psychiatry;
12(1): 258, 2022 06 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-35732627
13.
Clinical, genetic, and functional characterization of the glycine receptor ß-subunit A455P variant in a family affected by hyperekplexia syndrome.
J Biol Chem;
298(7): 102018, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35526563
14.
Astrocytes derived from ASD individuals alter behavior and destabilize neuronal activity through aberrant Ca2+ signaling.
Mol Psychiatry;
27(5): 2470-2484, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35365802
15.
Prenatal Drugs and Their Effects on the Developing Brain: Insights From Three-Dimensional Human Organoids.
Front Neurosci;
16: 848648, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35401083
16.
Use of colistin with rifampicin, trimethoprim-sulfamethoxazole and teicoplanin in Acinetobacter mouse infection model.
Future Microbiol;
17: 665-671, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35400195
17.
Integrated Analysis of Transcriptomic and Genomic Data Reveals Blood Biomarkers With Diagnostic and Prognostic Potential in Non-small Cell Lung Cancer.
Front Mol Biosci;
9: 774738, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35309509
18.
Mucosal fungi promote gut barrier function and social behavior via Type 17 immunity.
Cell;
185(5): 831-846.e14, 2022 03 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35176228
19.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat;
43(3): 403-419, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34989426
20.
Hepatitis E Infection in Solid Organ Transplant Recipients in Turkey.
Turk J Gastroenterol;
33(1): 68-73, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35040790