Julia Schröder

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Moneef Shoukier, Nina Klein, Bernd Auber et al. · Clinical Genetics · 2012 · 67 citations · Full text

Array Cgh, Genetics, Genetic Epidemiology +17

A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect

Moneef Shoukier, Julia Wickert, Julia Schröder et al. · American Journal of Medical Genetics Part A · 2011 · 42 citations

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]

Julia Schröder, Anne Katrin Läßig, Danuta Galetzka et al. · Behavioral and Brain Functions · 2013 · 15 citations · Full text

Homozygous variants in the gene <i>SCAPER</i> cause syndromic intellectual disability

Kimia Kahrizi, Mareike Huber, Danuta Galetzka et al. · American Journal of Medical Genetics Part A · 2019 · 14 citations

Complex Trait Genetics, Mendelian Disorder, Homozygous Variants +13

A de novo interstitial deletion of 2p23.3–24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy

Moneef Shoukier, Julia Schröder, Barbara Zoll et al. · American Journal of Medical Genetics Part A · 2012 · 12 citations