Extensive Normal Copy Number Variation of a β-Defensin Antimicrobial-Gene Cluster
Hollox, E.J., Armour, J.A.L., Barber, J.C.K.
Published in American journal of human genetics (01.09.2003)
Published in American journal of human genetics (01.09.2003)
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Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
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Book Review
Is karyotyping couples experiencing recurrent miscarriage worth the cost?
Barber, JCK, Cockwell, AE, Grant, E, Williams, S, Dunn, R, Ogilvie, CM
Published in BJOG : an international journal of obstetrics and gynaecology (01.06.2010)
Published in BJOG : an international journal of obstetrics and gynaecology (01.06.2010)
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A Novel Pseudo-Dicentric Variant of 16p11.2–q11.2 Contains Euchromatin from 16p11.2–p11.1 and Resembles Pathogenic Duplications of Proximal 16q
Barber, J.C.K., Brasch-Andersen, C., Maloney, V.K., Huang, S., Bateman, M.S., Graakjaer, J., Heinl, U.D., Fagerberg, C.
Published in Cytogenetic and genome research (01.01.2013)
Published in Cytogenetic and genome research (01.01.2013)
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Another Family with a Euchromatic Duplication Variant of 9q13-q21.1 Derived from Segmentally Duplicated Pericentromeric Euchromatin
Barber, J.C.K., Rodrigues, R., Maloney, V.K., Taborda, F., Rodrigues, M. do C., Bateman, M.S.
Published in Cytogenetic and genome research (01.01.2013)
Published in Cytogenetic and genome research (01.01.2013)
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Journal Article
Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders
Ozgen, HM, Van Daalen, E, Bolton, PF, Maloney, VK, Huang, S, Cresswell, L, Van Den Boogaard, MJ, Eleveld, MJ, Van‘t Slot, R, Hochstenbach, R, Beemer, FA, Barrow, M, Barber, JCK, Poot, M
Published in Clinical genetics (01.10.2009)
Published in Clinical genetics (01.10.2009)
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A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH
Mercer, C.L., Browne, C.E., Barber, J.C.K., Maloney, V.K., Huang, S., Thomas, N.S., Foulds, N.
Published in Cytogenetic and genome research (01.01.2009)
Published in Cytogenetic and genome research (01.01.2009)
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Journal Article
Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect
Barber, J.C.K., Zhang, S., Friend, N., Collins, A.L., Maloney, V.K., Hastings, R., Farren, B., Barnicoat, A., Polityko, A.D., Rumyantseva, N.V., Starke, H., Ye, S.
Published in Cytogenetic and genome research (01.08.2006)
Published in Cytogenetic and genome research (01.08.2006)
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t(8;21) myelodysplasia, an early presentation of M2 AML
Taj, A S, Ross, F M, Vickers, M, Choudhury, D N, Harvey, J F, Barber, J C, Barton, C, Smith, A G
Published in British journal of haematology (01.04.1995)
Published in British journal of haematology (01.04.1995)
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Journal Article
RAPID IN SITU HARVESTING AND CYTOGENETIC ANALYSIS OF PERINATAL TISSUE SAMPLES
FISHER, A. M., COCKWELL, A. E., MOORE, K. J., GREGSON, N. M., CAMPBELL, P. L., CAMPBELL, C. M., HERBERT, A., BARBER, J. C. K., CROLLA, J. A.
Published in Prenatal diagnosis (01.07.1996)
Published in Prenatal diagnosis (01.07.1996)
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Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes
TEMPLE, I. K, GARDNER, R. J, MACKAY, D. J. G, BARBER, J. C. K, ROBINSON, D. O, SHIELD, J. P. H
Published in Diabetes (New York, N.Y.) (01.08.2000)
Published in Diabetes (New York, N.Y.) (01.08.2000)
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Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations
Browne, C.E., Dennis, N.R., Maher, E., Long, F.L., Nicholson, J.C., Sillibourne, J., Barber, J.C.K.
Published in American journal of human genetics (01.12.1997)
Published in American journal of human genetics (01.12.1997)
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Further Evidence for an Imprinted Gene for Neonatal Diabetes Localised to Chromosome 6q22–q23
Temple, I. Karen, Gardner, Rebecca J., Robinson, David O., Kibirige, Mohammed S., Ferguson, Arthur W., Baum, J. David, Barber, John C. K., James, Rowena S., Shield, Julian P. H.
Published in Human molecular genetics (01.08.1996)
Published in Human molecular genetics (01.08.1996)
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