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PreviewIssue DateTitleAuthor(s)
2016TBC1D24 genotype-phenotype correlationBalestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M.; Verstreken, P.; Cardon, A.; Stražišar, B.; Holder, J.; Lesca, G.; Mancardi, M.; Poulat, A.; Repetto, G.; Banka, S.; Bilo, L.; Birkeland, L.; Bosch, F.; Brockmann, K.; Cross, J.; Doummar, D.; et al.
2016Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidismHughes, J.; Aubert, M.; Heatlie, J.; Gardner, A.; Gecz, J.; Morgan, T.; Belsky, J.; Thomas, P.
2016Pachyonychia Congenita: a spectrum of KRT6a mutations in Australian patientsForrest, C.; Casey, G.; Mordaunt, D.; Thompson, E.; Gordon, L.
2016Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implicationsGagliardi, L.; Burt, M.; Feng, J.; Poplawski, N.; Scott, H.
2016Biallelic SUN5 mutations cause autosomal-recessive acephalic spermatozoa syndromeZhu, F.; Wang, F.; Yang, X.; Zhang, J.; Wu, H.; Zhang, Z.; Zhang, Z.; He, X.; Zhou, P.; Wei, Z.; Gecz, J.; Cao, Y.
2016Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemiaIrving, J.; Enshaei, A.; Parker, C.; Sutton, R.; Kuiper, R.; Erhorn, A.; Minto, L.; Venn, N.; Law, T.; Yu, J.; Schwab, C.; Davies, R.; Matheson, E.; Davies, A.; Sonneveld, E.; Den Boer, M.; Love, S.; Harrison, C.; Hoogerbrugge, P.; Revesz, T.; et al.
2016Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyCorbett, M.A.; Bellows, S.T.; Li, M.; Carroll, R.; Micallef, S.; Carvill, G.L.; Myers, C.T.; Howell, K.B.; Maljevic, S.; Lerche, H.; Gazina, E.V.; Mefford, H.C.; Bahlo, M.; Berkovic, S.F.; Petrou, S.; Scheffer, I.E.; Gecz, J.

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