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Publications by B. Utsch

Mutation Analysis of NPHP6/CEP290 in Patients With Joubert Syndrome and Senior Loken Syndrome

Journal of Medical Genetics

English

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Joubert Syndrome With Ocular Defect

English

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated With a TMEM216 Mutation

American Journal of Human Genetics

English

Mutation Analysis of UBE3A in Angelman Syndrome Patients

American Journal of Human Genetics

English

Analysis of SCN1A Mutation and Parental Origin in Patients With Dravet Syndrome

Journal of Human Genetics

English

KIAA0586is Mutated in Joubert Syndrome

English

Diffusion Tensor Imaging in Joubert Syndrome

American Journal of Neuroradiology

Nuclear Medicine

English

‘Molar Tooth’ Sign in Joubert Syndrome

Pediatric Radiology

Nuclear Medicine

English

Analysis of Human Samples Reveals Impaired SHH-dependent Cerebellar Development in Joubert Syndrome/Meckel Syndrome

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Noonan Syndrome: Comparing Mutation-Positive With Mutation-Negative Dutch Patients

Molecular Syndromology

English