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Publications by Kathleen Freson
Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
American Journal of Human Genetics
Genetics
Defective DNA Polymerase Α-Primase Leads to X-Linked Intellectual Disability Associated With Severe Growth Retardation, Microcephaly, and Hypogonadism
American Journal of Human Genetics
Genetics
A Gain-Of-Function Variant in DIAPH1 Causes Dominant Macrothrombocytopenia and Hearing Loss
Blood
Biochemistry
Immunology
Cell Biology
Hematology
Curated Disease‐causing Genes for Bleeding, Thrombotic and Platelet Disorders: Communication From the SSC of the ISTH
Journal of Thrombosis and Haemostasis
Medicine
Hematology
Thrombopoietic Effect of VPAC1 Inhibition During Megakaryopoiesis
British Journal of Haematology
Hematology
Platelet Defects in Congenital Variant of Rett Syndrome Patients With FOXG1 Mutations or Reduced Expression Due to a Position Effect at 14q12
European Journal of Human Genetics
Genetics
Blood Platelet Research in Autism Spectrum Disorders: In Search of Biomarkers
Research and Practice in Thrombosis and Haemostasis
