View in EDS HTML Full Text PDF Full Text

Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.

Saved in:
Bibliographic Details
Title: Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.
Authors: Fei, Hongjun1,2 (AUTHOR), Han, Xu1,2 (AUTHOR), Chen, Yiyao1,2 (AUTHOR), Xu, Yan1,2 (AUTHOR), Chang, Chunxin1,2 (AUTHOR), Li, Ming1,2 (AUTHOR), Wang, Yanlin1,2 (AUTHOR), Wang, Jian1,2,3 (AUTHOR), Li, Niu1,2,3 (AUTHOR) Liniu0509@163.com, Li, Shuyuan1,2,3 (AUTHOR) shuyuanli816@163.com
Source: Orphanet Journal of Rare Diseases. 5/23/2025, Vol. 20 Issue 1, p1-11. 11p.
Database: Academic Search Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 185422705
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Fei%2C+Hongjun%22">Fei, Hongjun</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Han%2C+Xu%22">Han, Xu</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chen%2C+Yiyao%22">Chen, Yiyao</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Xu%2C+Yan%22">Xu, Yan</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chang%2C+Chunxin%22">Chang, Chunxin</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Li%2C+Ming%22">Li, Ming</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wang%2C+Yanlin%22">Wang, Yanlin</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wang%2C+Jian%22">Wang, Jian</searchLink><relatesTo>1,2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Li%2C+Niu%22">Li, Niu</searchLink><relatesTo>1,2,3</relatesTo> (AUTHOR)<i> Liniu0509@163.com</i><br /><searchLink fieldCode="AR" term="%22Li%2C+Shuyuan%22">Li, Shuyuan</searchLink><relatesTo>1,2,3</relatesTo> (AUTHOR)<i> shuyuanli816@163.com</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 5/23/2025, Vol. 20 Issue 1, p1-11. 11p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=185422705
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13023-025-03807-z
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 11
        StartPage: 1
    Titles:
      – TitleFull: Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Fei, Hongjun
      – PersonEntity:
          Name:
            NameFull: Han, Xu
      – PersonEntity:
          Name:
            NameFull: Chen, Yiyao
      – PersonEntity:
          Name:
            NameFull: Xu, Yan
      – PersonEntity:
          Name:
            NameFull: Chang, Chunxin
      – PersonEntity:
          Name:
            NameFull: Li, Ming
      – PersonEntity:
          Name:
            NameFull: Wang, Yanlin
      – PersonEntity:
          Name:
            NameFull: Wang, Jian
      – PersonEntity:
          Name:
            NameFull: Li, Niu
      – PersonEntity:
          Name:
            NameFull: Li, Shuyuan
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 23
              M: 05
              Text: 5/23/2025
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-print
              Value: 17501172
          Numbering:
            – Type: volume
              Value: 20
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Orphanet Journal of Rare Diseases
              Type: main
ResultId 1