Diagnostic pitfalls in patients with malformations of cortical development-Reference-Cited by-同舟云学术

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Diagnostic pitfalls in patients with malformations of cortical development

Published:2022-03 Issue: Volume:37 Page:123-128
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Fischer Jan,Di Donato Nataliya

Funder

Horizon 2020

COST

Deutsche Forschungsgemeinschaft

Bundesministerium für Bildung und Forschung

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference47 articles.

1. A classification scheme for malformations of cortical development;Barkovich;Neuropediatrics,1996

2. International consensus recommendations on the diagnostic work-up for malformations of cortical development;Oegema;Nat. Rev. Neurol.,2020

3. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases;Pena;Genet. Med.,2018

4. Characterizing and measuring bias in sequence data;Ross;Genome Biol.,2013

5. Definitions and classification of malformations of cortical development: practical guidelines;Severino;Brain,2020

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review;Frontiers in Neurology;2023-04-25

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