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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
PLoS One. 2013 Nov 12;8(11):e78496. doi: 10.1371/journal.pone.0078496. eCollection 2013.
PLoS One. 2013.
PMID: 24265693
Free PMC article.
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J.
Uyanik G, et al. Among authors: kortge jung s.
Neurology. 2007 Jul 31;69(5):442-7. doi: 10.1212/01.wnl.0000266629.98503.d0.
Neurology. 2007.
PMID: 17664403
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Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy.
Gutensohn K, Müller SP, Thomann K, Stein W, Suren A, Körtge-Jung S, Schlüter G, Legler TJ.
Gutensohn K, et al. Among authors: kortge jung s.
BJOG. 2010 May;117(6):722-9. doi: 10.1111/j.1471-0528.2010.02518.x. Epub 2010 Feb 22.
BJOG. 2010.
PMID: 20175873
Clinical Trial.
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Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.
Simon-Bouy B, Taillandier A, Fauvert D, Brun-Heath I, Serre JL, Armengod CG, Bialer MG, Mathieu M, Cousin J, Chitayat D, Liebelt J, Feldman B, Gérard-Blanluet M, Körtge-Jung S, King C, Laivuori H, Le Merrer M, Mehta S, Jern C, Sharif S, Prieur F, Gillessen-Kaesbach G, Zankl A, Mornet E.
Simon-Bouy B, et al. Among authors: kortge jung s.
Prenat Diagn. 2008 Nov;28(11):993-8. doi: 10.1002/pd.2088.
Prenat Diagn. 2008.
PMID: 18925618
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Prenatal sonographic findings in trisomy 22: five case reports and review of the literature.
Stressig R, Körtge-Jung S, Hickmann G, Kozlowski P.
Stressig R, et al. Among authors: kortge jung s.
J Ultrasound Med. 2005 Nov;24(11):1547-53. doi: 10.7863/jum.2005.24.11.1547.
J Ultrasound Med. 2005.
PMID: 16239659
Review.
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Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis.
Derichs N, Schuster A, Grund I, Ernsting A, Stolpe C, Körtge-Jung S, Gallati S, Stuhrmann M, Kozlowski P, Ballmann M.
Derichs N, et al. Among authors: kortge jung s.
Clin Genet. 2005 Jun;67(6):529-31. doi: 10.1111/j.1399-0004.2005.00437.x.
Clin Genet. 2005.
PMID: 15857421
No abstract available.
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Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
Taillandier A, Lia-Baldini AS, Mouchard M, Robin B, Muller F, Simon-Bouy B, Serre JL, Bera-Louville A, Bonduelle M, Eckhardt J, Gaillard D, Myhre AG, Körtge-Jung S, Larget-Piet L, Malou E, Sillence D, Temple IK, Viot G, Mornet E.
Taillandier A, et al. Among authors: kortge jung s.
Hum Mutat. 2001;18(1):83-4. doi: 10.1002/humu.1154.
Hum Mutat. 2001.
PMID: 11438998
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