-
Sinclair, AH.
Sex Determination, Human☆.
2018
view publication
-
Rothacker, KM, Ayers, KL, Tang, D, Joshi, K, van den Bergen, JA, Robevska, G, Samnakay, N, Nagarajan, L, Francis, K, Sinclair, AH, et al.
A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report..
Int J Pediatr Endocrinol
2018:
2
2018
view publication
-
Robevska, G, van den Bergen, JA, Ohnesorg, T, Eggers, S, Hanna, C, Hersmus, R, Thompson, EM, Baxendale, A, Verge, CF, Lafferty, AR, et al.
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development..
Hum Mutat
39(1)
:
124 -139
2018
view publication
-
Martinez de LaPiscina, I, de Mingo, C, Riedl, S, Rodriguez, A, Pandey, AV, Fernández-Cancio, M, Camats, N, Sinclair, A, Castaño, L, Audi, L, et al.
GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes..
Front Endocrinol (Lausanne)
9:
142
2018
view publication
-
Croft, B, Ohnesorg, T, Sinclair, AH.
The Role of Copy Number Variants in Disorders of Sex Development..
Sex Dev
12(1-3)
:
19 -29
2018
view publication