Alternative Splicing of Exon 17 and a Missense Mutation in Exon 20 of the Insulin Receptor Gene in Two Brothers with a Novel Syndrome of Insulin Resistance (Congenital Fiber-Type Disproportion Myopathy)

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Hormone Research in Paediatrics, Vol. 52, Iss. 5, 2000-05 ,pp. : 211-220

Karger

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Identification of a Novel Nonsense Mutation in the Ligand-Binding Domain of the Vitamin D Receptor Gene and Clinical Description of Two Greek Patients with Hereditary Vitamin D-Resistant Rickets and Alopecia

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Hormone Research in Paediatrics, Vol. 82, Iss. 3, 2014-07 ,pp. : 206-212

Karger

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Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome

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Hormone Research in Paediatrics, Vol. 84, Iss. 2, 2015-07 ,pp. : 73-78

Karger

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Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation

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Hormone Research in Paediatrics, Vol. 84, Iss. 3, 2015-07 ,pp. : 212-216

Karger

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A Novel AAAS Gene Mutation (p.R194X) in a Patient with Triple A Syndrome

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Hormone Research in Paediatrics, Vol. 65, Iss. 4, 2006-05 ,pp. : 171-176

Karger

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