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1.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Hum Genet
; 142(6): 785-808, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37079061
2.
Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.
Int J Mol Sci
; 24(23)2023 Nov 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-38069202
3.
The Interplay between PARP Inhibitors and Immunotherapy in Ovarian Cancer: The Rationale behind a New Combination Therapy.
Int J Mol Sci
; 23(7)2022 Mar 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-35409229
4.
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Hum Mol Genet
; 28(13): 2133-2142, 2019 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30806661
5.
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
Clin Genet
; 99(6): 829-835, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33604894
6.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
J Med Genet
; 57(11): 760-768, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32170002
7.
Biallelic LZTR1 variants in a 49-year-old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults.
Am J Med Genet A
; 194(5): e63518, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38135892
8.
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.
BMC Med Genet
; 16: 69, 2015 Aug 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-26297663
9.
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes.
BMC Cancer
; 14: 661, 2014 Sep 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-25208626
10.
Transcriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in Pdcd10-Depleted Mouse Endothelial Cells.
Genes (Basel)
; 13(6)2022 05 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-35741725
11.
Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family.
Audiol Res
; 11(3): 443-451, 2021 Sep 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34562879
12.
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction.
Front Cardiovasc Med
; 8: 635141, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34095246
13.
Genetic analysis of genes associated with epilepsy.
Acta Biomed
; 91(13-S): e2020005, 2020 11 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33170158
14.
A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.
Genes (Basel)
; 11(6)2020 06 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-32604767
15.
Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial.
Trials
; 21(1): 401, 2020 May 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32398113
16.
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.
Eur J Hum Genet
; 27(7): 1113-1120, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30787447
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