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Karin Dahan

department of nephrology
H指数:39
被引数:6,798

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Clinical and genetic characteristics of patients diagnosed with atypical hemolytic uremic syndrome (aHUS): epidemiological data from the Belgian cohort of the Global aHUS Registry

典型溶血尿毒症综合征(aHUS)患者的临床和遗传特征:来自全球aHUS登记处比利时队列的流行病学数据

2025-10-170
OA
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
2023-11-019
PRE
RETRACTION: Hypermethylation of the 5′ CpG island of the p14ARF flanking exon 1β in human colorectal cancer displaying a restricted pattern of p53 overexpression concomitant with increased MDM2 expression (Retraction of Vol 4, 10.1186/1868-7083-4-9, 2012)

撤回: 人类结直肠癌中p14ARF侧翼外显子1β 的5 ′ CpG岛的超甲基化显示p53过度表达的限制性模式,伴随着MDM2表达的增加 (第4卷的撤回,10.1186/1868-7083-4-9,2012)

2023-05-170
OAAI
Epidemiology, Outcomes, and Complement Gene Variants in Secondary Thrombotic Microangiopathies
2023-04-2110
PRE
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency
2023-04-0118
OA
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype
2022-01-0116
OAAI
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
2020-09-0168
OA
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults

高通量测序有助于成人肾小管疾病和家族性高钙血症低钙尿症的诊断

2019-12-0137
OAAI
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
2019-09-0729
OAAI
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)

143患者的ARID1B谱: 从非综合征性智力障碍到棺材-西里斯综合征 (第21卷,1295页,2019页)

2019-09-015
OAAI
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

143患者的ARID1B谱: 从非综合征性智力障碍到棺材-西里斯综合征

2019-06-0191
OAAI
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
2019-03-0641
OAAI
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

37个基因的同时测序确定了大多数患有肾小管疾病的儿童的致病突变

2018-04-0177
OAAI
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848
2018-01-01162
OAAI