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Manon Suerink

leiden university - excl lumc
H指数:19
被引数:1,110

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Prevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas

APC嵌合体在结直肠腺瘤患者中的患病率及后果

2026-03-090
OAAI
ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)

欧洲生殖咨询研究小组(ERN GENTURIS)关于癌症易感综合征个体(包括GENTURIS)的生殖选择咨询指南

2026-01-130
OAAI
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (vol 3, 2024, 59)

更正: 神经发育和神经退行性疾病Bryant-li-bhoj综合征的扩展表型谱与38个额外的个体 (第3卷,2024,59)

2024-07-260
OAAI
Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome
2024-05-090
PRE
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
2024-04-273
OAAI
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (Feb, 10.1038/s41431-024-01560-8, 2024)
2024-04-030
OA
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops
2024-01-251
OA
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers
2023-09-016
OAAI
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency
2023-04-0118
OA
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
2022-05-284
OA
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
2019-12-0113
OAAI