-
2
-
-
9544220660
-
Mapping genomic deletions down to the base: A quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion
-
Duno M, Hove H, Kirchhoff M, Devriendt K, Schwartz M. 2004. Mapping genomic deletions down to the base: A quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion. Hum Genet 115:459-467.
-
(2004)
Hum Genet
, vol.115
, pp. 459-467
-
-
Duno, M.1
Hove, H.2
Kirchhoff, M.3
Devriendt, K.4
Schwartz, M.5
-
4
-
-
0023863373
-
De novo 3q/7q translocation and associated interstitial 7q35 deletion
-
Fryns JP, Kleczkowska A, Van den Berghe H. 1988. De novo 3q/7q translocation and associated interstitial 7q35 deletion. Clin Genet 33:60-62.
-
(1988)
Clin Genet
, vol.33
, pp. 60-62
-
-
Fryns, J.P.1
Kleczkowska, A.2
Van Den Berghe, H.3
-
5
-
-
9244232876
-
T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome
-
Kanters JK, Fanoe S, Larsen LA, Thomsen PEB, Toft E, Christiansen M. 2004. T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome. Heart Rhythm 1(3):285-292.
-
(2004)
Heart Rhythm
, vol.1
, Issue.3
, pp. 285-292
-
-
Kanters, J.K.1
Fanoe, S.2
Larsen, L.A.3
Thomsen, P.E.B.4
Toft, E.5
Christiansen, M.6
-
6
-
-
85047689493
-
Long QT syndrome: Novel insights into the mechanisms of cardiac arrhythmias
-
Kass RS, Moss AJ. 2003. Long QT syndrome: Novel insights into the mechanisms of cardiac arrhythmias. J Clin Invest 112(6):810-815.
-
(2003)
J Clin Invest
, vol.112
, Issue.6
, pp. 810-815
-
-
Kass, R.S.1
Moss, A.J.2
-
7
-
-
0031011310
-
Automatic correction of the interfering effect of unsuppressed interspersed repetitive sequences in comparative genomic hybridization analysis
-
Kirchhoff M, Gerdes T, Maahr J, Rose H, Lundsteen C. 1997. Automatic correction of the interfering effect of unsuppressed interspersed repetitive sequences in comparative genomic hybridization analysis. Cytometry 28:130-134.
-
(1997)
Cytometry
, vol.28
, pp. 130-134
-
-
Kirchhoff, M.1
Gerdes, T.2
Maahr, J.3
Rose, H.4
Lundsteen, C.5
-
8
-
-
0032032471
-
Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals
-
Kirchhoff M, Gerdes T, Rose H, Maahr J, Ottesen AM, Lundsteen C. 1998. Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry 31:163-173.
-
(1998)
Cytometry
, vol.31
, pp. 163-173
-
-
Kirchhoff, M.1
Gerdes, T.2
Rose, H.3
Maahr, J.4
Ottesen, A.M.5
Lundsteen, C.6
-
9
-
-
0030208042
-
De novo terminal deletion of chromosome 7 [46,XX,del(7)(q35)]
-
Lo BH, Murch A, Chabros V, Withnell R. 1996. De novo terminal deletion of chromosome 7 [46,XX,del(7)(q35)]. J Paediatr Child Health 32:347-349.
-
(1996)
J Paediatr Child Health
, vol.32
, pp. 347-349
-
-
Lo, B.H.1
Murch, A.2
Chabros, V.3
Withnell, R.4
-
10
-
-
0033514256
-
Genetic and molecular basis of cardiac arrhythmias: Impact on clinical management parts I and II
-
Priori SG, Barhanin J, Hauer RN, Haverkamp W, Jongsma HJ, Kleber AG, McKenna WJ, Roden DM, Rudy Y, Schwartz K, Schwartz PJ, Towbin JA, Wilde AM. 1999. Genetic and molecular basis of cardiac arrhythmias: Impact on clinical management parts I and II. Circulation 99(4)518-528.
-
(1999)
Circulation
, vol.99
, Issue.4
, pp. 518-528
-
-
Priori, S.G.1
Barhanin, J.2
Hauer, R.N.3
Haverkamp, W.4
Jongsma, H.J.5
Kleber, A.G.6
McKenna, W.J.7
Roden, D.M.8
Rudy, Y.9
Schwartz, K.10
Schwartz, P.J.11
Towbin, J.A.12
Wilde, A.M.13
-
11
-
-
0037221992
-
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia
-
Schimmenti LA, de la Cruz J, Lewis RA, Karkera JD, Manligas GS, Roessler E, Muenke M. 2003. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet Part A 116A:215-221.
-
(2003)
Am J Med Genet Part A
, vol.116
, pp. 215-221
-
-
Schimmenti, L.A.1
De La Cruz, J.2
Lewis, R.A.3
Karkera, J.D.4
Manligas, G.S.5
Roessler, E.6
Muenke, M.7
-
13
-
-
0026565771
-
The interstitial deletion of bands q33-35 of long arm of chromosome 7: A review with a new case report
-
Verma RS, Conte RA, Sayegh SE, Kanjilal D. 1992. The interstitial deletion of bands q33-35 of long arm of chromosome 7: A review with a new case report. Clin Genet 41:82-86.
-
(1992)
Clin Genet
, vol.41
, pp. 82-86
-
-
Verma, R.S.1
Conte, R.A.2
Sayegh, S.E.3
Kanjilal, D.4
|