autosomal recessive trait

 
National Institutes of Health

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2012
2012
Arachnoid cysts are congenital fluid-filled compartments within the cerebrospinal fluid cisterns and cerebral fissures. They most… (More)
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2006
2006
Chronic granulomatous disease (CGD) is a primary immune deficiency disorder of the phagocytes. In this disorder, phagocytic cells… (More)
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2004
2004
A fifth mandibular incisor is a eumorphic supernumerary tooth and has rarely been described in the medical literature. We report… (More)
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Highly Cited
2003
Highly Cited
2003
WHIM syndrome is an immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia and extensive human… (More)
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2002
2002
Cavalier King Charles Spaniels (CKCS) often have idiopathic asymptomatic thrombocytopenia. In affected dogs, the thrombocytes… (More)
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2002
2002
Two sisters descended from consanguineous parents underwent unsuccessful IVF treatments. Their oocytes showed neither a first or… (More)
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Highly Cited
2000
Highly Cited
2000
OBJECTIVE Mutations in the GJB2 gene are a major cause of autosomal recessive and sporadic types of congenital deafness. The… (More)
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1999
1999
Myotonia is a clinical sign characterized by a delay in skeletal muscle relaxation following electrical or mechanical stimulation… (More)
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Highly Cited
1996
Highly Cited
1996
Primary congenital glaucoma (gene symbol: GLC3) is an ocular disorder that occurs for 0.01-0.04% of blind people. In the majority… (More)
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1984
1984
Three of four siblings had sacral meningocele with subsequent development of hydrocephaly; two died during the neonatal period… (More)
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