Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism
about
Discovery of CLC transport proteins: cloning, structure, function and pathophysiologyRecent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism.X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.Albinism: modern molecular diagnosisCopy number variation plays an important role in clinical epilepsy.Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypesA case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome.Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing.Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis.An atypical contiguous gene syndrome: molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis.Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene.
P2860
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P2860
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism
description
1993 nî lūn-bûn
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1993 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Analysis of a terminal Xp22.3 ...... ng of X linked ocular albinism
@ast
Analysis of a terminal Xp22.3 ...... ng of X linked ocular albinism
@en
Analysis of a terminal Xp22.3 ...... ng of X linked ocular albinism
@en-gb
Analysis of a terminal Xp22.3 ...... ng of X linked ocular albinism
@nl
type
label
Analysis of a terminal Xp22.3 ...... ng of X linked ocular albinism
@ast
Analysis of a terminal Xp22.3 ...... ng of X linked ocular albinism
@en
Analysis of a terminal Xp22.3 ...... ng of X linked ocular albinism
@en-gb
Analysis of a terminal Xp22.3 ...... ng of X linked ocular albinism
@nl
prefLabel
Analysis of a terminal Xp22.3 ...... ng of X linked ocular albinism
@ast
Analysis of a terminal Xp22.3 ...... ng of X linked ocular albinism
@en
Analysis of a terminal Xp22.3 ...... ng of X linked ocular albinism
@en-gb
Analysis of a terminal Xp22.3 ...... ng of X linked ocular albinism
@nl
P2093
P2860
P356
P1476
Analysis of a terminal Xp22.3 ...... ng of X linked ocular albinism
@en
P2093
A Bacskulin
D Hosenfeld
H C Oppermann
J Jenderny
O Swensson
S Schuffenhauer
P2860
P304
P356
10.1136/JMG.30.10.838
P407
P577
1993-10-01T00:00:00Z