K. de Silva

A Child with a Novel de novo Mutation in the Aristaless Domain of the Aristaless-Related Homeobox (ARX) Gene Presenting with Ambiguous Genitalia and Psychomotor Delay

K. McElreavey, A. Bashamboo, N. Sirisena, 2014, Sexual Development.

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

J. Rosenfeld, P. Donohoue, Mahim Jain, 2016, Human molecular genetics.

Novel gross deletion at the LHX4 gene locus in a child with growth hormone deficiency.

K. Tennekoon, A. S. Hewage, T. Sundralingam, 2021, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

J. Rosenfeld, P. Donohoue, Mahim Jain, 2016, Human molecular genetics.