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Human Molecular Genetics, Vol. 10, Iss. 4, 2001-02 ,pp. : 415-421

Oxford University Press

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A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family

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The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

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Human Molecular Genetics, Vol. 22, Iss. 8, 2013-04 ,pp. : 1483-1492

Oxford University Press

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A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe

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ECEL1 mutation causes fetal arthrogryposis multiplex congenita

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 4, 2015-04 ,pp. : 731-743

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