Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46, XY diff...

por Ayers, Katie, van den Bergen, Jocelyn, Robevska, Gorjana, Listyasari, Nurin, Raza, Jamal, Atta, Irum, Riedl, Stefan, Rothacker, Karen, Choong, Catherine, Faradz, Sultana M H, Sinclair, Andrew
Publicado 2019

A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report

por Rothacker, Karen M., Ayers, Katie L., Tang, Dave, Joshi, Kiranjit, van den Bergen, Jocelyn A., Robevska, Gorjana, Samnakay, Naeem, Nagarajan, Lakshmi, Francis, Kate, Sinclair, Andrew H., Choong, Catherine S.
Publicado 2018

Characterisation of peripheral bone mineral density in youth at risk of secondary osteoporosis - a preliminary insight

por Jenkins, Mark, Hart, Nicolas H., Nimphius, Sophia, Chivers, Paola, Rantalainen, Timo, Rothacker, Karen M., Beck, Belinda R., Weeks, Benjamin K., McIntyre, Fleur, Hands, Beth, Beeson, Brendan P., Siafarikas, Aris
Publicado 2020