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1.
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Genet Med;
23(1): 47-58, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32893267
2.
Evolution of P-wave indices during long-term follow-up as markers of atrial substrate progression in arrhythmogenic right ventricular cardiomyopathy.
Europace;
23(23 Suppl 1): i29-i37, 2021 03 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33751075
3.
Submicroscopic genomic imbalances in Burkitt lymphomas/leukemias: association with age and further evidence that 8q24/MYC translocations are not sufficient for leukemogenesis.
Genes Chromosomes Cancer;
52(4): 370-7, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23225516
4.
High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome.
Genes Chromosomes Cancer;
51(2): 196-206, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22072402
5.
B-cell precursor t(8;14)(q11;q32)-positive acute lymphoblastic leukemia in children is strongly associated with Down syndrome or with a concomitant Philadelphia chromosome.
Eur J Haematol;
82(1): 46-53, 2009 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-19067745
6.
Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene.
Ophthalmic Genet;
40(3): 227-236, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31264915
7.
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.
Eur J Hum Genet;
24(12): 1783-1791, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27406248
8.
Tiling resolution array-based comparative genomic hybridisation analyses of acute lymphoblastic leukaemias in children with Down syndrome reveal recurrent gain of 8q and deletions of 7p and 9p.
Br J Haematol;
146(1): 113-5, 2009 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-19344409
9.
[Hereditary risk of sudden cardiac death--genetic investigation of the family]. / Arftlig risk för plötslig hjärtdöd--genetisk utredning av familjen.
Lakartidningen;
106(15-16): 1089-93, 2009.
Artículo
en Sueco
| MEDLINE | ID: mdl-19492675
10.
Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma.
J Hematol Oncol;
7: 82, 2014 Nov 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-25388916
11.
Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries.
J Hematol Oncol;
7: 32, 2014 Apr 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-24726034
12.
Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy.
Fertil Steril;
95(1): 221-4, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-20638056
13.
t(9;11)(p22;p15) [NUP98/PSIP1] is a poor prognostic marker associated with de novo acute myeloid leukaemia expressing both mature and immature surface antigens.
Leuk Res;
35(6): e75-6, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21168209
14.
Chromosomal anomalies in first-trimester miscarriages.
Acta Obstet Gynecol Scand;
84(11): 1103-7, 2005 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-16232180
15.
Trisomy 4q syndrome: presentation of a new case and review of the literature.
Ann Genet;
45(2): 53-7, 2002.
Artículo
en Inglés
| MEDLINE | ID: mdl-12119211
16.
Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO-93-AML trial between 1993 and 2001.
Br J Haematol;
121(4): 566-77, 2003 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-12752097
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