Ianina Scheer

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky et al. · Nature Genetics · 2017 · 160 citations · Full text

Rare Diseases, Smchd1 Mutations, Mendelian Disorder +9

Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients

Andrea Poretti, Thierry A.G.M. Huisman, Ianina Scheer et al. · American Journal of Neuroradiology · 2011 · 157 citations · Full text

Severe Congenital Heart Defects Are Associated with Global Reduction of Neonatal Brain Volumes

Michael von Rhein, Andreas Buchmann, Cornelia Hagmann et al. · The Journal of Pediatrics · 2015 · 124 citations

Heart Failure, Global Reduction, Pediatric Heart Disease +11

Low-dose spiral CT: applicability to paediatric chest imaging

P. Rogalla, B. Stöver, Ianina Scheer et al. · Pediatric Radiology · 1999 · 86 citations

Computed Tomography, Medical Imaging, Pediatrics +7

CRIM‐negative infantile Pompe disease: 42‐month treatment outcome

Marianne Rohrbach, Andrea Klein, Alice Köhli‐Wiesner et al. · Journal of Inherited Metabolic Disease · 2010 · 82 citations · Full text