Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Jonna Komulainen-Ebrahim
Ataxia-Pancytopenia Syndrome With SAMD9L Mutations
Neurology: Genetics
Neurology
Genetics
Novel Variants and Phenotypes Widen the Phenotypic Spectrum of GABRG2-related Disorders
Seizure : the journal of the British Epilepsy Association
Medicine
Neurology
Related publications
Mutations inKCND3cause Spinocerebellar Ataxia Type 22
Annals of Neurology
Neurology
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
American Journal of Human Genetics
Genetics
Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population
Frontiers in Neurology
Neurology
Recessive Mitochondrial Ataxia Syndrome
Sheehan's Syndrome With Pancytopenia: A Case Report and Review of the Literature
Journal of Medical Case Reports
Medicine
Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome
Otology and Neurotology
Medicine
Otorhinolaryngology
Sensory Systems
Neurology
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Spastic Ataxia-Corneal Dystrophy Syndrome