-
Kortüm, F, Caputo, V, Bauer, CK, Stella, L, Ciolfi, A, Alawi, M, Bocchinfuso, G, Flex, E, Paolacci, S, Dentici, ML, et al.
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Nature Genetics
47(6)
:
661 -667
2015
view publication
-
Bondavalli, D, White, SM, Steer, A, Pflaumer, A, Winship, I.
Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?.
American Journal of Medical Genetics Part A
167(4)
:
802 -804
2015
view publication
-
Banka, S, Lederer, D, Benoit, V, Jenkins, E, Howard, E, Bunstone, S, Kerr, B, McKee, S, Lloyd, IC, Shears, D, et al.
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2).
Clinical Genetics
87(3)
:
252 -258
2015
view publication
-
Lionti, T, Reid, SM, White, SM, Rowell, MM.
A population‐based profile of 160 Australians with Prader‐Willi syndrome: Trends in diagnosis, birth prevalence and birth characteristics.
American Journal of Medical Genetics Part A
167(2)
:
371 -378
2015
view publication
-
Sim, JCH, White, SM, Lockhart, PJ.
ARID1B-mediated disorders: Mutations and possible mechanisms.
Intractable & Rare Diseases Research
4(1)
:
17 -23
2015
view publication