Friederike Hennig

<i>EIF2S3</i>Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

Martina Škopková, Friederike Hennig, Byung‐Sik Shin et al. · Human Mutation · 2017 · 81 citations · Full text

Genetics, Disease Gene Identification, Transcriptional Regulation +19

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

Nadja Ehmke, Luitgard Graul‐Neumann, Lukasz Smorag et al. · The American Journal of Human Genetics · 2017 · 64 citations · Full text

Mendelian Disorder, Mitochondrial Dysfunction, Genetic Disorder +10

Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Suzanna G.M. Frints, Friederike Hennig, Roberto Colombo et al. · Human Mutation · 2019 · 45 citations · Full text

Genetics, Pathology, Molecular Genetics +16

Single-cell, whole-embryo phenotyping of mammalian developmental disorders

Xingfan Huang, Jana Henck, Chengxiang Qiu et al. · Nature · 2023 · 30 citations · Full text

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

Martina Škopková, Friederike Hennig, Shin Bs et al. · Yearbook of pediatric endocrinology · 2018 · 10 citations

Mendelian Disorder, Autoimmune Disease, Integrated Stress Response +15