Neurofibromatosis Type 1 Gene Mutation Analysis Using Sequence Capture and High-throughput Sequencing-Reference-Cited by-同舟云学术

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Neurofibromatosis Type 1 Gene Mutation Analysis Using Sequence Capture and High-throughput Sequencing

Published:2014 Issue:6 Volume:94 Page:663-666
ISSN:0001-5555
Container-title:Acta Dermato Venereologica
language:en
Short-container-title:Acta Derm Venerol

Author:

Uusitalo E,Hammais A,Palonen E,Brandt A,Mäkelä V,Kallionpää R,Jouhilahti E,Pöyhönen M,Soini J,Peltonen J,Peltonen S

Publisher

Medical Journals Sweden AB

Subject

Dermatology,General Medicine

Cited by 10 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. Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants;Pediatric Neurology;2023-12

2. Duodenal somatostatinoma presenting as obstructive jaundice with the coexistence of a gastrointestinal stromal tumour in neurofibromatosis type 1: a case with review of the literature;BMJ Case Reports;2019-01

3. Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis;Journal of Biomedical Science;2018-10-05

4. Post-traumatic Stress Disorder in Patients and Relatives Following a Diagnosis of De novo Neurofibromatosis Type 1;Acta Dermato Venereologica;2018

5. Clinical Characteristics of the Halo Phenomenon in Infants with Neurofibromatosis 1: A Case Series;Acta Dermato Venereologica;2018

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