Hyper-Immunoglobulin E Syndrome, Autosomal Recessive

Known as: Hyper Immunoglobulin E Syndrome, Autosomal Recessive, HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, HIES, Autosomal Recessive 
 
National Institutes of Health

Papers overview

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2010
2010
Autosomal recessive hypotrichosis (ARH) is characterized by sparse hair on the scalp without other abnormalities. Three genes… (More)
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2009
2009
The C10orf2 gene encodes the mitochondrial DNA helicase Twinkle, which is one of the proteins important for mitochondrial DNA… (More)
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Review
2004
Review
2004
The phenotype of maternal uniparental disomy of chromosome 14 (upd(14)mat) is characterized by pre and postnatal growth… (More)
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2004
2004
E rythropoietic protoporphyria (EPP; MIM 177000) is an inherited disorder of haem biosynthesis characterised by the onset in… (More)
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Highly Cited
2002
Highly Cited
2002
Human chromosome 11 harbors two Usher type I loci, USHIB and USHIC, which encode myosin VIIA and harmonin, respectively. The… (More)
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2002
2002
DFNB, the nonsyndromic hearing loss with an autosomal recessive mode of inheritance constitutes the majority of severe to… (More)
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Highly Cited
2001
Highly Cited
2001
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which patients undergo premature ageing and have a… (More)
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2000
2000
Autosomal recessive limb-girdle muscular dystrophies represent a genetically heterogeneous group of diseases characterized by a… (More)
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1993
1993
Autosomal recessive Charcot-Marie-Tooth (CMT) disease (CMT4) is a complex group of severe childhood motor and sensory… (More)
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1992
1992
Rod monochromacy (complete congenital achromatopsia) is inherited as an autosomal recessive trait of unknown genetic location… (More)
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