Dietje E. Fransen van de Putte

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers et al. · European Journal of Medical Genetics · 2009 · 292 citations

Normal Individuals, Psychiatry, Syndromic Autism +11

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Heather E. Olson, Nolwenn Jean‐Marçais, Edward Yang et al. · The American Journal of Human Genetics · 2018 · 76 citations · Full text

Developmental Anomaly, Facial Dysmorphism, Developmental Biology +9

Long-term follow-up of hepatitis C infection in a large cohort of patients with inherited bleeding disorders

Dietje E. Fransen van de Putte, Michael Makris, Kathelijn Fischer et al. · Journal of Hepatology · 2013 · 56 citations

Hepatic Disorders, Hepatology, Hepatitis C +10

Non-fatal cardiovascular disease, malignancies, and other co-morbidity in adult haemophilia patients

Dietje E. Fransen van de Putte, Kathelijn Fischer, Astrid E. Pulles et al. · Thrombosis Research · 2011 · 51 citations

Cardiovascular Disease, Adult Haemophilia Patients, Hematology +9

A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene

Jan Coebergh, Dietje E. Fransen van de Putte, I. Snoeck et al. · European Journal of Paediatric Neurology · 2013 · 49 citations

New Variable Phenotype, Molecular Neuroscience, Mendelian Disorder +11