نتائج البحث - "Kjaergaard, Susanne"

61

دورية أكاديمية

Multiplex ligation‐dependent probe amplification (MLPA) in prenatal diagnosis—experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y

المؤلفون: Gerdes, Tommy, Kirchhoff, Maria, Lind, Anne‐Marie, Vestergaard Larsen, Gitte, Kjaergaard, Susanne

المصدر: Prenatal Diagnosis ; volume 28, issue 12, page 1119-1125 ; ISSN 0197-3851 1097-0223

الإتاحة: https://doi.org/10.1002/pd.2137Test

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62

دورية أكاديمية

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/RSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

المؤلفون: Rendtorff, Nanna D., Bjerregaard, Bolette, Frödin, Morten, Kjaergaard, Susanne, Hove, Hanne, Skovby, Flemming, Brøndum-Nielsen, The Danish Tuberous Sclerosis Group, Karen, Schwartz, Marianne

المصدر: Rendtorff , N D , Bjerregaard , B , Frödin , M , Kjaergaard , S , Hove , H , Skovby , F , Brøndum-Nielsen , T D T S G K & Schwartz , M 2005 , ' Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/RSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations ' , Human Mutation , vol. 26 , no. 4 , pp. 374-383 . https://doi.org/10.1002/humu.20227Test

مصطلحات موضوعية: /dk/atira/pure/core/keywords/Life, Former LIFE faculty, TSC1, TSC2, DGGE, MLPA, mutation screening, Danish

الإتاحة: https://doi.org/10.1002/humu.20227Test
https://curis.ku.dk/portal/da/publications/analysis-of-65-tuberous-sclerosis-complex-tsc-patients-by-tsc2-dgge-tsc1rsc2-mlpa-and-tsc1-longrange-pcr-sequencing-and-report-of-28-novel-mutationsTest(e8ab7880-a1bf-11dd-b6ae-000ea68e967b).html
http://www.interscience.wiley.comTest

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63

دورية أكاديمية

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

المؤلفون: Nielsen, Jørgen E, Koefoed, Pernille, Kjaergaard, Susanne, Jensen, Lisa Neerup, Nørremølle, Anne, Hasholt, Lis

المصدر: Nielsen , J E , Koefoed , P , Kjaergaard , S , Jensen , L N , Nørremølle , A & Hasholt , L 2004 , ' Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection ' , Prenatal Diagnosis , vol. 24 , no. 5 , pp. 363-6 . https://doi.org/10.1002/pd.875Test

الإتاحة: https://doi.org/10.1002/pd.875Test
https://curis.ku.dk/portal/da/publications/prenatal-diagnosis-of-autosomal-dominant-hereditary-spastic-paraplegia-spg4-using-direct-mutation-detectionTest(bef28620-8bff-11de-8bc9-000ea68e967b).html

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