4.4 Article

Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Novel PCNT variants inMOPDIIwith attenuated growth restriction and pachygyria

Stephanie Waich et al.

CLINICAL GENETICS (2020)

Letter Medicine, General & Internal

Novel DOCK7 mutations in a Chinese patient with early infantile epileptic encephalopathy 23

Bing Bai et al.

CHINESE MEDICAL JOURNAL (2019)

Article Genetics & Heredity

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

Henrike O. Heyne et al.

GENETICS IN MEDICINE (2019)

Review Pathology

From next-generation sequencing to targeted treatment of non-acquired epilepsies

Rikke S. Moller et al.

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2019)

Article Clinical Neurology

A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy

Dilsad Turkdogan et al.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2019)

Article Cell Biology

High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development

Andrea Wilderman et al.

CELL REPORTS (2018)

Article Cell Biology

Dual role for DOCK7 in tangential migration of interneuron precursors in the postnatal forebrain

Shinichi Nakamuta et al.

JOURNAL OF CELL BIOLOGY (2017)

Article Genetics & Heredity

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

Isabelle Perrault et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2014)

Article Medicine, General & Internal

Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia

Kiran Musunuru et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)