Clinical expression of Menkes disease in females with normal karyotype.
about
Menkes disease: what a multidisciplinary approach can doMenkes disease in affected females: the clinical disease spectrumAnimals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degenerationMenkes disease presenting with epilepsia partialis continuaMolecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse modelIs It a Pathogenic ATP7A Variation and Is It Menkes Disease?Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures.An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.Menkes disease - An important cause of early onset refractory seizures.Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.Menkes disease with discordant phenotype in female monozygotic twins.
P2860
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P2860
Clinical expression of Menkes disease in females with normal karyotype.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Clinical expression of Menkes disease in females with normal karyotype.
@ast
Clinical expression of Menkes disease in females with normal karyotype.
@en
type
label
Clinical expression of Menkes disease in females with normal karyotype.
@ast
Clinical expression of Menkes disease in females with normal karyotype.
@en
prefLabel
Clinical expression of Menkes disease in females with normal karyotype.
@ast
Clinical expression of Menkes disease in females with normal karyotype.
@en
P2093
P2860
P356
P1476
Clinical expression of Menkes disease in females with normal karyotype
@en
P2093
Arnaud Josiane
Chris Bennett
Daniel Riconda
Lydie Burglen
Malgorzata Lenartowicz
Margreet Ausems
Marie-Therese Zabot
Richard Fisher
Sandra Janssens
P2860
P2888
P356
10.1186/1750-1172-7-6
P577
2012-01-22T00:00:00Z
P5875
P6179
1046291288