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George A. Tanteles

the cyprus institute of neurology and genetics
H指数:20
被引数:2,073

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Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing

通过全外显子测序发现先天性及/或发育异常患者的致病性遗传变异

Genes
IF2.8
2026-07-260
OAAI
Investigating the “Dark” Genome: First Report of Partington Syndrome in Cyprus

研究“暗”基因组:塞浦路斯首例Partington综合征报告

2025-10-150
OAAI
Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing

流产妊娠中的胎儿遗传因素:来自一项Meta分析的研究见解与全外显子组测序的有效性

2025-02-250
OA
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

超过29,000名癫痫患者的ghis荟萃分析确定了26个风险基因座和亚型特异性遗传结构

2023-08-3143
OAAI
Natural history of KBG syndrome in a large European cohort

大型欧洲队列中KBG综合征的自然史

2022-07-2117
OAAI
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
2022-05-1711
OAAI
Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

来自患者的组织的转录组学特征和随后的途径分析揭示了与痉挛性共济失调有关的生物学途径

2022-03-112
OAAI
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry
2021-10-026
OAAI
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

亚基因不耐受,ClinVar和癫痫: 29,165个人的全外显子组测序研究

2021-06-0143
OAAI
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
2021-03-0119
OA
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP
2020-09-169
OAAI
GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature
2020-08-2825
OAAI
Mowat-Wilson syndrome: growth charts
2020-06-1514
OAAI
European lipodystrophy registry: background and structure
2020-01-1522
OAAI