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1.
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
J Hum Genet
; 68(7): 469-475, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-36864288
2.
Complement C3 Inhibitor Pegcetacoplan for Geographic Atrophy Secondary to Age-Related Macular Degeneration: A Randomized Phase 2 Trial.
Ophthalmology
; 127(2): 186-195, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31474439
3.
Diagnostic implications of genetic copy number variation in epilepsy plus.
Epilepsia
; 60(4): 689-706, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30866059
4.
Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks.
BMC Genomics
; 16: 84, 2015 Feb 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-25765079
5.
Remodeling of the endothelial cell transcriptional program via paracrine and DNA-binding activities of MPO.
iScience
; 27(2): 108898, 2024 Feb 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38322992
6.
Genetic variation in dopaminergic activity is associated with the risk for psychiatric side effects of levetiracetam.
Epilepsia
; 54(1): 36-44, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22881836
7.
A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation.
Audiol Neurootol
; 18(3): 192-9, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23635807
8.
Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.
Nat Genet
; 55(4): 607-618, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36928603
9.
Erratum: Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks.
BMC Genomics
; 16: 433, 2015 Jun 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26048372
10.
Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.
Nephrol Dial Transplant
; 25(5): 1496-501, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-20007758
11.
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.
Sci Rep
; 8(1): 4170, 2018 03 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29520014
12.
A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.
Mol Vis
; 12: 518-22, 2006 May 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-16735993
13.
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.
Ophthalmic Genet
; 37(3): 294-300, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-26865426
14.
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.
Eur J Hum Genet
; 24(2): 208-13, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25920558
15.
Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors.
Clin Cancer Res
; 22(19): 4837-4847, 2016 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27252416
16.
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.
Pediatr Nephrol
; 25(11): 2375-6, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-20607301
17.
Label-Free Protein-RNA Interactome Analysis Identifies Khsrp Signaling Downstream of the p38/Mk2 Kinase Complex as a Critical Modulator of Cell Cycle Progression.
PLoS One
; 10(5): e0125745, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25993413
18.
Beijing clades of Mycobacterium tuberculosis are associated with differential survival in HIV-negative Russian patients.
Infect Genet Evol
; 36: 517-523, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26319998
19.
Deep ion sequencing of amplicon adapter ligated libraries: a novel tool in molecular diagnostics of formalin fixed and paraffin embedded tissues.
J Clin Pathol
; 66(9): 803-6, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23618693
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