Novel and recurrent mutations in theNF1 gene in Italian patients with neurofibromatosis type 1-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel and recurrent mutations in theNF1 gene in Italian patients with neurofibromatosis type 1

Published:2004 Issue:6 Volume:23 Page:629-629
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Luca Alessandro De,Schirinzi Annalisa,Buccino Anna,Bottillo Irene,Sinibaldi Lorenzo,Torrente Isabella,Ciavarella Angela,Dottorini Tania,Porciello Roberto,Giustini Sandra,Calvieri Stefano,Dallapiccola Bruno

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 50 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. Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics;npj Genomic Medicine;2024-09-08

2. Clinical characteristics and in silico analysis of congenital pseudarthrosis of the tibia combined with neurofibromatosis type 1 caused by a novel NF1 mutation;Frontiers in Genetics;2022-09-28

3. Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype;Genes;2022-06-23

4. Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families;Balkan Medical Journal;2021-11-22

5. Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1;Journal of Pediatric Genetics;2021-10-19

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP