DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)
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The C20orf133 gene is disrupted in a patient with Kabuki syndromeThe C20orf133 gene is disrupted in a patient with Kabuki syndrome.ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation.
P2860
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)
description
2002 nî lūn-bûn
@nan
2002 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
DHPLC analysis as a platform f ...... sorders of glycosylation (CDG)
@ast
DHPLC analysis as a platform f ...... sorders of glycosylation (CDG)
@en
DHPLC analysis as a platform f ...... sorders of glycosylation (CDG)
@nl
type
label
DHPLC analysis as a platform f ...... sorders of glycosylation (CDG)
@ast
DHPLC analysis as a platform f ...... sorders of glycosylation (CDG)
@en
DHPLC analysis as a platform f ...... sorders of glycosylation (CDG)
@nl
prefLabel
DHPLC analysis as a platform f ...... sorders of glycosylation (CDG)
@ast
DHPLC analysis as a platform f ...... sorders of glycosylation (CDG)
@en
DHPLC analysis as a platform f ...... sorders of glycosylation (CDG)
@nl
P2093
P2860
P356
P1476
DHPLC analysis as a platform f ...... sorders of glycosylation (CDG)
@en
P2093
Elke Geuzens
Els Schollen
Gert Matthijs
Kevin Martens
P2860
P2888
P356
10.1038/SJ.EJHG.5200858
P407
P577
2002-10-01T00:00:00Z