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1.
Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature.
Am J Med Genet A
; 173(7): 1970-1974, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28411391
2.
Genome-wide association studies of response and side effects to the BNT162b2 vaccine in Italian healthcare workers: Increased antibody levels and side effects in carriers of the HLA-A*03:01 allele.
HLA
; 102(6): 707-719, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37469131
3.
Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling.
Front Genet
; 13: 982508, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36386832
4.
High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis.
J Pers Med
; 12(10)2022 Sep 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36294757
5.
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.
Genes (Basel)
; 13(11)2022 10 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-36360195
6.
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism.
Eur J Med Genet
; 63(2): 103639, 2020 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-30858057
7.
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Mol Genet Genomic Med
; 8(1): e1056, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31851782
8.
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss.
Hear Res
; 381: 107769, 2019 09 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31387071
9.
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.
Eur J Hum Genet
; 27(1): 70-79, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30177775
10.
Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.
Mol Genet Genomic Med
; 7(3): e546, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30628197
11.
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.
Front Genet
; 9: 681, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30622556
12.
Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.
Genome Biol
; 19(1): 87, 2018 07 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-30012220
13.
Brain-derived neurotrophic factor serum levels in genetically isolated populations: gender-specific association with anxiety disorder subtypes but not with anxiety levels or Val66Met polymorphism.
PeerJ
; 3: e1252, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26539329
14.
Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.
Mol Cytogenet
; 8: 18, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25821518
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