Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).
about
Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencingGenomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.A novel small deletion in the NHS gene associated with Nance-Horan syndrome.Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.Nance-Horan syndrome-The oral perspective on a rare disease.NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome.A novel Xp22.13 microdeletion in Nance-Horan syndrome.
P2860
Q30432938-48E8B364-F873-4D0C-829D-735D6CE65699Q39560572-8BA164F1-FC21-46E8-9EB2-116FBA799FA0Q49837914-8C0AD173-5581-40EF-BDBA-6866FF2F27FCQ50044313-548B58E3-5407-411D-A218-1B83BF997CC1Q51110162-35A6FCAF-7AA9-432B-AA31-4A1D2C0C1C34Q53030229-62C711F1-8CF0-40C4-85F8-FC4B71E5199BQ53259145-49BBBAA5-181C-4EDE-9190-16AF23A67FA2Q54141361-600429D3-49CB-4B31-91A3-5E902265C1FD
P2860
Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Phenotype-genotype correlation ...... taract (Nance-Horan syndrome).
@en
Phenotype-genotype correlation ...... -linked developmental cataract
@nl
type
label
Phenotype-genotype correlation ...... taract (Nance-Horan syndrome).
@en
Phenotype-genotype correlation ...... -linked developmental cataract
@nl
prefLabel
Phenotype-genotype correlation ...... taract (Nance-Horan syndrome).
@en
Phenotype-genotype correlation ...... -linked developmental cataract
@nl
P2860
P1433
P1476
Phenotype-genotype correlation ...... taract (Nance-Horan syndrome).
@en
P2093
Arif O Khan
Jawahir Y Mohamed
P2860
P356
10.3109/13816810.2011.634881
P577
2012-01-09T00:00:00Z