Indexed keywords
ADULT;
ARTICLE;
CASE REPORT;
CHROMOSOME 20P;
CHROMOSOME 6Q;
CHROMOSOME BAND;
CHROMOSOME TRANSLOCATION;
CLINICAL FEATURE;
CYTOGENETICS;
DISEASE COURSE;
FEMALE;
GENE DISRUPTION;
HETEROTAXY SYNDROME;
HUMAN;
KARYOTYPE;
PRIORITY JOURNAL;
ABNORMALITIES, MULTIPLE;
CHROMOSOMES, HUMAN, PAIR 20;
CHROMOSOMES, HUMAN, PAIR 6;
FEMALE;
FETUS;
HEART SEPTAL DEFECTS;
HUMANS;
IN SITU HYBRIDIZATION, FLUORESCENCE;
INFANT;
INFANT, NEWBORN;
KARYOTYPING;
SITUS INVERSUS;
TRANSLOCATION, GENETIC;
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1
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0031689323
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Two rights make a wrong: Human left-right malformations
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(1998)
Hum Mol Genet
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, pp. 1565-1571
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Casey, B.1
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3
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79960655760
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The DNA sequence of human chromosome 22
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(1999)
Nature
, vol.402
, pp. 489-495
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Dunham, I.1
Shimizu, N.2
Roe, B.A.3
Chissoe, S.4
Hunt, A.R.5
Collins, J.E.6
Bruskiewich, R.7
Beare, D.M.8
Clamp, M.9
Smink, L.J.10
Ainscough, R.11
Almeida, J.P.12
Babbage, A.13
Bagguley, C.14
Bailey, J.15
Barlow, K.16
Bates, K.N.17
Beasley, O.18
Bird, C.P.19
Blakey, S.20
Bridgeman, A.M.21
Buck, D.22
Burgess, J.23
Burrill, W.D.24
Burton, J.25
Carder, C.26
Carter, N.P.27
Chen, Y.28
Clark, G.29
Clegg, S.M.30
Cobley, V.31
Cole, C.G.32
Collier, R.E.33
Connor, R.E.34
Conroy, D.35
Corby, N.36
Coville, G.J.37
Cox, A.V.38
Davis, J.39
Dawson, E.40
Dhami, P.D.41
Dockree, C.42
Dodsworth, S.J.43
Durbin, R.M.44
Ellington, A.45
Evans, K.L.46
Fey, J.M.47
Fleming, K.48
French, I.49
Garner, A.A.50
Gilbert, J.G.R.51
Goward, M.E.52
Grafham, D.53
Griffiths, M.N.54
Hall, C.55
Hall, R.56
Hall-Tamlyn, G.57
Heathcott, R.W.58
Ho, S.59
Holmes, S.60
Hunt, S.E.61
Jones, M.C.62
Kershaw, J.63
Kimberley, A.64
King, A.65
Laird, G.K.66
Langford, C.F.67
Leversha, M.A.68
Lloyd, C.69
Lloyd, D.M.70
Martyn, I.D.71
Mashreghi-Mohammadi, M.72
Matthews, L.73
McCann, O.T.74
McClay, J.75
McLaren, S.76
McMurray, A.A.77
Milne, S.A.78
Mortimore, B.J.79
Odell, C.N.80
Pavitt, R.81
Pearce, A.V.82
Pearson, D.83
Phillimore, B.J.84
Phillips, S.H.85
Plumb, R.W.86
Ramsay, H.87
Ramsey, Y.88
Rogers, L.89
Ross, M.T.90
Scott, C.E.91
Sehra, H.K.92
Skuce, C.D.93
Smalley, S.94
Smith, M.L.95
Soderlund, C.96
Spragon, L.97
Steward, C.A.98
Sulston, J.E.99
more..
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4
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16944364984
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X-linked situs abnormalities result from mutations in ZIC3
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(1997)
Nat Genet
, vol.17
, pp. 305-308
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Gebbia, M.1
Ferrero, G.B.2
Pilia, G.3
Bassi, M.T.4
Aylsworth, A.S.5
Penman-Splitt, M.6
Bird, L.M.7
Bamforth, J.S.8
Burn, J.9
Schlessinger, D.10
Nelson, D.L.11
Casey, B.12
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5
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0034030932
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Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation
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(2000)
Hum Genet
, vol.106
, pp. 277-287
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Iida, A.1
Emi, M.2
Matsuoka, R.3
Hiratsuka, E.4
Okui, K.5
Ohashi, H.6
Inazawa, J.7
Fukushima, Y.8
Imai, T.9
Nakamura, Y.10
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9
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0033365058
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Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia
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(1999)
Am J Hum Genet
, vol.65
, pp. 1508-1519
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Pennarun, G.1
Escudier, E.2
Chapelin, C.3
Bridoux, A.M.4
Cacheux, V.5
Roger, G.6
Clement, A.7
Goossens, M.8
Amselem, S.9
Duriez, B.10
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10
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0033358653
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Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: Evidence for an extended control region
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(1999)
Am J Hum Genet
, vol.65
, pp. 111-124
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Pfeifer, D.1
Kist, R.2
Dewar, K.3
Devon, K.4
Lander, E.S.5
Birren, B.6
Korniszewski, L.7
Back, E.8
Scherer, G.9
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