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Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome

, : Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. Prenatal Diagnosis 35(1): 97-99


PMID: 25174843

DOI: 10.1002/pd.4490

Other references

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Polla, B.S.; Mili, N.; Donati, Y.R.; Bonventre, J.V., 1991: Heat-shock proteins: what implications in nephrology?. Nephrologie 12(3): 119-123

Adamson, H.G., 1908: Circinate Erythema of two years' duration in a Boy. Proceedings of the Royal Society of Medicine 1(Dermatol Sect): 10-10

Miller, M.R.; Dunham, J.P.; Amores, A.; Cresko, W.A.; Johnson, E.A., 2006: Rapid and cost-effective polymorphism identification and genotyping using restriction site associated DNA (RAD) markers. Restriction site associated DNA (RAD) tags are a genome-wide representation of every site of a particular restriction enzyme by short DNA tags. Most organisms segregate large numbers of DNA sequence polymorphisms that disrupt restriction sites, w...

Hashimoto, Y.; Yoshinoya, S.; Aikawa, T.; Mitamura, T.; Miyoshi, Y.; Muranaka, M.; Miyamoto, T.; Yanase, Y.; Kawasaki, T., 1986: Enhanced endothelial cell proliferation in acute Kawasaki disease (muco-cutaneous lymph node syndrome). Paired sera from 30 patients with muco-cutaneous lymph node syndrome (Kawasaki disease) were studied for possible effects on human vascular endothelial cells growth in vitro. The majority of sera from acute phase muco-cutaneous lymph node syndrome...

D.S.Lva.C.C.; Tennekoon.G.E., 1955: Tay-Sachs disease in two Sinhalese children. British Medical Journal 2(4942): 768-770

Malenotti, E., 1924: Prospaltella berlesei Aphelinus mali. This paper describes the differences in behaviour of the two parasitic Chalcids, Prospaltella berlesei and Aphelinus mali, and of their respective hosts, Diaspis pentagona and Eriosoma (Schizoneurd) lanigerum.

Zeeuw, G.S.; Hasslinger, M.A., 1997: Comparative studies on the reduction of faecal egg counts and treatment intervals of endoparasites in the horse. For a 44-week period the drugs moxidectin, ivermectin and pyrantel embonate were comparatively tested for efficacy and persistency in horses under stud farm conditions. All horses harboured small strongyles, and 4 (8.5%) Strongylus edentatus; the...

Turpeinen, O.; Roine, P.; Pekkarinen, M.; Karvonen, M.J.; Rautanen, Y.; Runeberg, J.; Alivirta, P., 1960: Effect on serum-cholesterol level of replacement of dietary milk fat by soybean oil. The saturated fatty acid content of the diet in two Finnish mental hospitals was decreased and the linoleic and other polyethenoic acids content increased by replacing whole milk by a skimmilk and soya bean oil emulsion and by replacing butter and...

Kühne, P.; Herzinger, C.M.; Schubert, M.; Woollam, J.A.; Hofmann, T., 2014: Invited article: An integrated mid-infrared, far-infrared, and terahertz optical Hall effect instrument. We report on the development of the first integrated mid-infrared, far-infrared, and terahertz optical Hall effect instrument, covering an ultra wide spectral range from 3 cm(-1) to 7000 cm(-1) (0.1-210 THz or 0.4-870 meV). The instrument comprise...