Miriam Stampfer

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

Miriam Stampfer, Yasmina Amraoui, Xuntian Jiang et al. · Orphanet Journal of Rare Diseases · 2013 · 99 citations · Full text

Medicine, Clinical Sciences, Neurology +17

<i>FOXP2</i> variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

Miriam S. Reuter, Ute Moog, Tracy A. Briggs et al. · Journal of Medical Genetics · 2016 · 86 citations

Life Sciences, Genetics, Molecular Genetics +17

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

Shaun Bolton, Vina Soran, M. Pineda et al. · Orphanet Journal of Rare Diseases · 2022 · 42 citations · Full text

Medicine, Neurology, Pediatrics +17

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i>

Lottie D. Morison, Elisabeth Meffert, Miriam Stampfer et al. · Journal of Medical Genetics · 2022 · 32 citations · Full text

Education, Human Development, Speech-language Pathology +17

Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations

Thomas Harasim, Teresa Neuhann, Anne Behnecke et al. · Journal of Clinical Medicine · 2022 · 29 citations · Full text

Life Sciences, Genetics, Obstetrics +17