A. Wolf

A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.

M. Allen, T. Parzefall, K. Frei, 2017, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: a new autosomal recessive syndrome.

I. Kennerknecht, R. Brenner, K. Günther, 1995, American journal of medical genetics.

PALML, a novel paralemmin-related gene mapping on human chromosome 1p21.

X. Estivill, K. Devriendt, L. Sumoy, 2001, Gene.

Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism

A. Grüters, H. Biebermann, H. Krude, 1997, Experimental and clinical endocrinology & diabetes.