recessive inheritance

 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1949-2018
05101519492017

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Highly Cited
2009
Highly Cited
2009
BACKGROUND Chronic mucocutaneous candidiasis may be manifested as a primary immunodeficiency characterized by persistent or… (More)
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Highly Cited
2007
Highly Cited
2007
Hyper-immunoglobulin E syndrome (HIES) is a compound primary immunodeficiency characterized by a highly elevated serum IgE… (More)
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Highly Cited
2000
Highly Cited
2000
The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than 20 disease causing mutations… (More)
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Highly Cited
1999
Highly Cited
1999
OBJECTIVE Chiari malformations are regarded as a pathological continuum of hindbrain maldevelopments characterized by downward… (More)
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Highly Cited
1995
Highly Cited
1995
Hypergonadotropic ovarian dysgenesis (ODG) with normal karyotype is a heterogeneous condition that in some cases displays… (More)
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1995
1995
Alport syndrome (AS) is an hereditary disease of basement membrane collagen. It is mainly transmitted as a dominant X-linked… (More)
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1988
1988
Epidermolysis bullosa with unusually severe clinical features was associated with progressive muscular dystrophy in two siblings… (More)
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1985
1985
A genetic analysis was made of 58 patients and their 42 families with APECED (autoimmune polyendocrinopathy--candidosis… (More)
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1985
1985
The authors ascertained 46 families with multiple incidences of autism (41 with two and five with three autistic probands… (More)
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1974
1974
Three cases of cerebral gigantism, two sibs and their double first cousin, are describedina largeinbred family from Israel. Two… (More)
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