The Neurofibromatoses: Classification, Clinical Features and Genetic Counselling
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KARGER
Cited by 37 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. Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment;Journal of Genetic Medicine;2022-12-31
2. Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype;Genes;2022-06-23
3. Pulmonary neurofibromatosis with bilateral bronchiectasis: A rare thoracic manifestation;Indian Journal of Respiratory Care;2021
4. Genome‐wide association study of café‐au‐lait macule number in neurofibromatosis type 1;Molecular Genetics & Genomic Medicine;2020-08-31
5. Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients;Genes;2020-06-19
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