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Stark, Z, Campbell, LJ, Mitchell, C, James, PA, Heath, JA, Boussioutas, A, Lynch, C, Trainer, AH.
Clinical problem-solving. Spot diagnosis..
N Engl J Med
370(23)
:
2229 -2236
2014
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Stark, Z, Delatycki, MB.
Parentage determination: a medical responsibility?.
J Med Ethics
40(6)
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387 -388
2014
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Kaiser, FJ, Ansari, M, Braunholz, D, Concepción Gil-Rodríguez, M, Decroos, C, Wilde, JJ, Fincher, CT, Kaur, M, Bando, M, Amor, DJ, et al.
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance..
Hum Mol Genet
23(11)
:
2888 -2900
2014
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Stutterd, C, Savoia, H, Fink, AM, Stark, Z.
Severe fetal ischaemic brain injury caused by homozygous protein C deficiency..
Prenat Diagn
34(2)
:
192 -194
2014
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Tuz, K, Bachmann-Gagescu, R, O’Day, DR, Hua, K, Isabella, CR, Phelps, IG, Stolarski, AE, O’Roak, BJ, Dempsey, JC, Lourenco, C, et al.
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy.
American Journal of Human Genetics
94(2)
:
310
2014
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