Frauke Hinrichs

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

Marija Dulovic‐Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy et al. · The American Journal of Human Genetics · 2019 · 46 citations · Full text

Neurodevelopmental Disorders, Genetic Disorder, Genetics +7

Pregnancy in a woman with maple syrup urine disease

S. Grÿnewald, Frauke Hinrichs, U. Wendel · Journal of Inherited Metabolic Disease · 1998 · 40 citations

SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6

Christine Zühlke, Matthias Spranger, S Spranger et al. · European Journal of Human Genetics · 2003 · 40 citations · Full text

Genetic Disorder, Natural Sciences, Genetics +7

Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease

Sun Ju Chung, Inke R. König, Katja Lohmann et al. · Parkinsonism & Related Disorders · 2018 · 18 citations

Autoimmune Disease, Colonic Mucosa, Immunology +5

<scp><i>RFC1</i></scp> and <scp><i>FGF14</i></scp> Repeat Expansions in Serbian Patients with Cerebellar Ataxia

Andona Milovanović, Nataša Dragaševic‐Mišković, Mirja Thomsen et al. · Movement Disorders Clinical Practice · 2024 · 18 citations · Full text

Neurological Disorder, Genetics, Genetic Epidemiology +26