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1.
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.
Am J Hum Genet
; 109(2): 210-222, 2022 02 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35065709
2.
Reduced penetrance of gene variants causing amyotrophic lateral sclerosis.
J Med Genet
; 61(3): 294-297, 2024 Feb 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38123999
3.
Predicting the impact of rare variants on RNA splicing in CAGI6.
Hum Genet
; 2024 Jan 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38170232
4.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36074901
5.
Investigating the Role of Brain Natriuretic Peptide (BNP) and N-Terminal-proBNP in Thrombosis and Acute Ischemic Stroke Etiology.
Int J Mol Sci
; 25(5)2024 Mar 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38474245
6.
Neurovascular coupling and cerebrovascular hemodynamics are modified by exercise training status at different stages of maturation during youth.
Am J Physiol Heart Circ Physiol
; 325(3): H510-H521, 2023 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37450291
7.
Cerebral blood flow and cerebrovascular reactivity are modified by maturational stage and exercise training status during youth.
Exp Physiol
; 108(12): 1500-1515, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37742137
8.
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.
J Med Genet
; 59(6): 544-548, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33963046
9.
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.
Hum Mutat
; 43(7): 963-970, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35476365
10.
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair.
Hum Mol Genet
; 29(13): 2200-2217, 2020 08 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32504093
11.
Unique metabolic phenotype and its transition during maturation of juvenile male germ cells.
FASEB J
; 35(5): e21513, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33811704
12.
Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.
Clin Exp Dermatol
; 47(12): 2342-2345, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36178237
13.
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Genet Med
; 23(12): 2360-2368, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34429528
14.
The administration of rtPA before mechanical thrombectomy in acute ischemic stroke patients is associated with a significant reduction of the retrieved clot area but it does not influence revascularization outcome.
J Thromb Thrombolysis
; 51(2): 545-551, 2021 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-32936433
15.
Characterization of the 'White' Appearing Clots that Cause Acute Ischemic Stroke.
J Stroke Cerebrovasc Dis
; 30(12): 106127, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34592611
16.
Large Artery Atherosclerotic Clots are Larger than Clots of other Stroke Etiologies and have Poorer Recanalization rates.
J Stroke Cerebrovasc Dis
; 30(1): 105463, 2021 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-33242780
17.
A Selection of Macrocyclic Peptides That Bind STING From an mRNA-Display Library With Split Degenerate Codons.
Angew Chem Int Ed Engl
; 60(42): 22640-22645, 2021 10 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34383389
18.
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Genet Med
; 22(6): 1005-1014, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32123317
19.
Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Genet Med
; 22(6): 1129, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-32235935
20.
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Exp Eye Res
; 192: 107950, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32014492