Isabella Wimplinger

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

Juliane Najm, Denise Horn, Isabella Wimplinger et al. · Nature Genetics · 2008 · 284 citations

Neuro-oncology, Developmental Biology, Ependyma +7

Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome

Isabella Wimplinger, Manuela Morleo, Georg Rosenberger et al. · The American Journal of Human Genetics · 2006 · 161 citations · Full text

Skin Development, Mendelian Disorder, Genetic Disorder +8

Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome

Isabella Wimplinger, Anita Rauch, Ulrike Orth et al. · European Journal of Medical Genetics · 2007 · 58 citations

High Clinical Variability, Terminal Xp Deletion, Genetic Disorder +4

HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?

Isabella Wimplinger, Gary M. Shaw, Kerstin Kutsche · PubMed · 2007 · 36 citations

Phenotypes of female adrenoleukodystrophy

Hae Hyuk Jung, Isabella Wimplinger, Sung Eun Jung et al. · Neurology · 2007 · 28 citations

Metabolic Disorder, Gynecology, Pathology +24