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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet. 2023 Feb 2;110(2):251-272. doi: 10.1016/j.ajhg.2022.12.015. Epub 2023 Jan 19.
Am J Hum Genet. 2023.
PMID: 36669495
Free PMC article.
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS.
Vandervore LV, et al. Among authors: van der sterre mlt.
Brain. 2019 Apr 1;142(4):867-884. doi: 10.1093/brain/awz045.
Brain. 2019.
PMID: 30879067
Free PMC article.
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Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.
Verhagen JMA, Burger J, Bekkers JA, den Dekker AT, von der Thüsen JH, Zajec M, Brüggenwirth HT, van der Sterre MLT, van den Born M, Luider TM, van IJcken WFJ, Wessels MW, Essers J, Roos-Hesselink JW, van der Pluijm I, van de Laar IMBH, Brosens E.
Verhagen JMA, et al. Among authors: van der sterre mlt.
Int J Mol Sci. 2021 Dec 31;23(1):438. doi: 10.3390/ijms23010438.
Int J Mol Sci. 2021.
PMID: 35008861
Free PMC article.
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Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience.
Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG.
Kleijer WJ, et al.
Prenat Diagn. 2006 Oct;26(10):980-4. doi: 10.1002/pd.1541.
Prenat Diagn. 2006.
PMID: 16941719
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Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk.
Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG.
Kleijer WJ, et al.
Prenat Diagn. 2007 Dec;27(12):1133-7. doi: 10.1002/pd.1849.
Prenat Diagn. 2007.
PMID: 17880036
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Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.
Kleijer WJ, Garritsen VH, van der Sterre ML, Berning C, Häberle J, Huijmans JG.
Kleijer WJ, et al.
Prenat Diagn. 2006 Mar;26(3):242-7. doi: 10.1002/pd.1390.
Prenat Diagn. 2006.
PMID: 16475226
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The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.
Linnebank M, Semmler A, Kleijer WJ, van der Sterre ML, Gärtner J, Fliessbach K, Sokolowski P, Köhler W, Schlegel U, Klockgether T, Wanders RJ, Schmidt S, Wüllner U, Kemp S.
Linnebank M, et al.
Hum Mutat. 2006 Oct;27(10):1063-4. doi: 10.1002/humu.9459.
Hum Mutat. 2006.
PMID: 16941496
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Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy.
Linnebank M, Kemp S, Wanders RJ, Kleijer WJ, van der Sterre ML, Gärtner J, Fliessbach K, Semmler A, Sokolowski P, Köhler W, Schlegel U, Schmidt S, Klockgether T, Wüllner U.
Linnebank M, et al.
Neurology. 2006 Feb 14;66(3):442-3. doi: 10.1212/01.wnl.0000196491.42058.6f.
Neurology. 2006.
PMID: 16476952
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