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Marfan syndrome (MFS) is the autosomal dominant-inherited multisystem connective-tissue disorder, with a reported incidence of 1… Expand CONTEXT
Physiological activation of the prokineticin pathway has a critical role in olfactory bulb morphogenesis and GnRH… Expand OBJECTIVE
To describe the clinical, morphologic, and genetic findings in a family in which one woman had nemaline myopathy… Expand Objective: To investigate the morphologic, electrophysiologic, and molecular correlates of muscle-specific tyrosine kinase… Expand Turner syndrome is the complex human phenotype associated with complete or partial monosomy X. Principle features of Turner… Expand OBJECTIVE
Neuropathologic evaluation was performed on an infant with fetal alcohol effects.
Coronal brain sections and… Expand Abstract We have studied 23 patients (14 men, nine women) in 18 kindreds with anosmia and hypogonadotropic hypogonadism. Seven… Expand A previously unrecognized mental retardation malformation syndrome was observed in five unrelated Japanese children. Consistent… Expand A CLINICAL syndrome characterized by progressive deafness, ophthalmological changes, and laboratory evidence of chronic renal… Expand