Found: 29
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Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature.
- Published in:
- European Journal of Pediatrics, 2001, v. 160, n. 9, p. 561
- By:
- Publication type:
- Article
Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 309, doi. 10.1111/j.1399-0004.1997.tb02479.x
- By:
- Publication type:
- Article
Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 10, p. 842, doi. 10.1002/1097-0223(200010)20:10<842::AID-PD915>3.0.CO;2-G
- By:
- Publication type:
- Article
Zellfreie fetale DNA im mütterlichen Blut: neue Möglichkeiten in der pränatalen Diagnostik/Cell free fetal DNA in maternal blood: new possibilities in prenatal diagnosis.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.
- Published in:
- Journal of Molecular Medicine, 2000, v. 78, n. 5, p. 282, doi. 10.1007/s001090000114
- By:
- Publication type:
- Article
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure.
- Published in:
- Journal of Molecular Medicine, 2000, v. 78, n. 1, p. 36, doi. 10.1007/s001090000079
- By:
- Publication type:
- Article
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
- Published in:
- Human Genetics, 2003, v. 114, n. 1, p. 51, doi. 10.1007/s00439-003-1016-3
- By:
- Publication type:
- Article
Improved definition of chromosomal breakpoints using high-resolution multicolour banding.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 478, doi. 10.1007/s004390100502
- By:
- Publication type:
- Article
Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 790, doi. 10.1038/sj.ejhg.5200889
- By:
- Publication type:
- Article
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 748, doi. 10.1038/sj.ejhg.5200378
- By:
- Publication type:
- Article
Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia.
- Published in:
- Carcinogenesis, 2002, v. 23, n. 7, p. 1121, doi. 10.1093/carcin/23.7.1121
- By:
- Publication type:
- Article
Increased cancer risk of heterozygotes with NBS1 germline mutations in poland.
- Published in:
- International Journal of Cancer, 2004, v. 111, n. 1, p. 67, doi. 10.1002/ijc.20239
- By:
- Publication type:
- Article
Gain of androgen receptor gene copies in primary prostate cancer due to X chromosome polysomy.
- Published in:
- Prostate, 2004, v. 59, n. 1, p. 59, doi. 10.1002/pros.10356
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- Publication type:
- Article
Heteromorphic variants of chromosome 9.
- Published in:
- Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-14
- By:
- Publication type:
- Article
High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11).
- Published in:
- Genes, Chromosomes & Cancer, 2006, v. 45, n. 10, p. 945, doi. 10.1002/gcc.20358
- By:
- Publication type:
- Article
The First Neocentric, Discontinuous, and Complex Small Supernumerary Marker Chromosome Composed of 7 Euchromatic Blocks Derived from 5 Different Chromosomes.
- Published in:
- Biomedicines, 2022, v. 10, n. 5, p. 1102, doi. 10.3390/biomedicines10051102
- By:
- Publication type:
- Article
No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence.
- Published in:
- British Journal of Haematology, 2000, v. 109, n. 1, p. 117, doi. 10.1046/j.1365-2141.2000.01973.x
- By:
- Publication type:
- Article
The influence of low molecular weight heparin medication on plasma DNA in pregnant women.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Consanguinity and pregnancy outcomes in a multi-ethnic, metropolitan European population.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 1, p. 81, doi. 10.1002/pd.4487
- By:
- Publication type:
- Article
Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe.
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 2, p. 185, doi. 10.1002/pd.4278
- By:
- Publication type:
- Article
Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 6, p. 569, doi. 10.1002/pd.3862
- By:
- Publication type:
- Article
'Normal' nuchal translucency: a justification to refrain from detailed scan? Analysis of 6858 cases with special reference to ethical aspects.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 6, p. 550, doi. 10.1002/pd.3854
- By:
- Publication type:
- Article
Fetal 46,XX/69,XXY mixoploidy: origin and confirmation by analysis of fetal urine cells.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 3, p. 287, doi. 10.1002/pd.2213
- By:
- Publication type:
- Article
Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 5, p. 475, doi. 10.1002/pd.1703
- By:
- Publication type:
- Article
Intersexual Twins due to Tetragametic Chimerism.
- Published in:
- Cytogenetic & Genome Research, 2022, v. 162, n. 7, p. 378, doi. 10.1159/000528737
- By:
- Publication type:
- Article
Another mutation within the HMG-box of the SRY gene associated with Swyer syndrome.
- Published in:
- Human Mutation, 1999, v. 13, n. 1, p. 85, doi. 10.1002/(SICI)1098-1004(1999)13:1<85::AID-HUMU16>3.0.CO;2-O
- By:
- Publication type:
- Article
Non-invasive prenatal screening tests – update 2022.
- Published in:
- Journal of Laboratory Medicine, 2022, v. 46, n. 4, p. 311, doi. 10.1515/labmed-2022-0023
- By:
- Publication type:
- Article
Non-invasive prenatal screening tests -- update 2022.
- Published in:
- Journal of Laboratory Medicine, 2022, v. 46, n. 4, p. 311, doi. 10.1515/labmed-2022-0023
- By:
- Publication type:
- Article