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Publications by Klaus Dieterich

Identification of Biallelic Germline Variants of SRP68 in a Sporadic Case With Severe Congenital Neutropenia

English

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Severe Congenital Neutropenia

English

Ultra-Sensitive CSF3R Deep Sequencing in Patients With Severe Congenital Neutropenia

Frontiers in Immunology

English

Biallelic ERBB3 Loss-Of-Function Variants Are Associated With a Novel Multisystem Syndrome Without Congenital Contracture

Orphanet Journal of Rare Diseases

English

Analysis of Germline Gene Copy Number Variants of Patients With Sporadic Pancreatic Adenocarcinoma Reveals Specific Variations

Cancer Research

English

Autosomal Recessive Severe Congenital Neutropenia Due to G6PC3 Deficiency

English

A Case of Nivolumab-Induced Severe Neutropenia With Stomatitis, Enteritis and Liver Dysfunction

Japanese Journal of Lung Cancer

Respiratory Medicine

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A New Case of SMA Phenotype Without Epilepsy Due to Biallelic Variants in ASAH1

European Journal of Human Genetics

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Functional Characteristics of Circulating Granulocytes in Severe Congenital Neutropenia Caused by ELANE Mutations

English

Congenital Neutropenia

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cancer Research

English