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Publications by J K Ploos van Amstel

SMAD4 Mutations Found in Unselected HHT Patients

Journal of Medical Genetics

English

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Germline MUTYH Gene Mutations Are Not Frequently Found in Unselected Patients With Papillary Breast Carcinoma

Hereditary Cancer in Clinical Practice

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Repository of SMAD4 Mutations: Reference for Genotype/ Phenotype Correlation

Journal of Data Mining in Genomics & Proteomics

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BRCA Germline Mutations in an Unselected Nationwide Cohort of Chinese Patients With Ovarian Cancer and Healthy Controls

Gynecologic Oncology

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Dynamin GTPase Regulation Is Altered by PH Domain Mutations Found in Centronuclear Myopathy Patients

Molecular Biology

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Truncating Mutations of PPM1D Are Found in Blood DNA Samples of Lung Cancer Patients

British Journal of Cancer

Cancer Research

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SMAD4 Somatic Mutations in Head and Neck Carcinoma Are Associated With Tumor Progression

Frontiers in Oncology

Cancer Research

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Functional Consequences of Tumorigenic Missense Mutations in the Amino-Terminal Domain of Smad4

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Novel CDKL5 Mutations Were Found in Patients in China: Retrospective Investigation in Cases of CDKL5-related Disorders

Italian Journal of Pediatrics

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Kinetic Characterization of Mutations Found in Propionic Acidemia and Methylcrotonylglycinuria

Journal of Biological Chemistry

Molecular Biology

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