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N-acetylaspartylglutamate in CNS hypomyelination.
Wamelink MM, Struys E, Holwerda U, Sistermans EA, van Spaendonk RM, Halley D, Willemsen MA, Jakobs C, van der Knaap MS, Wolf NI. Wamelink MM, et al. Among authors: halley d. Neuropediatrics. 2011 Feb;42(2):74-7. doi: 10.1055/s-0031-1277176. Epub 2011 May 3. Neuropediatrics. 2011. PMID: 21544765
Enzymatic and molecular strategies to diagnose Pompe disease.
Reuser A, Verheijen F, Kroos M, Okumiya T, Van Diggelen O, Van der Ploeg A, Halley D. Reuser A, et al. Among authors: halley d. Expert Opin Med Diagn. 2010 Jan;4(1):79-89. doi: 10.1517/17530050903460300. Epub 2009 Dec 1. Expert Opin Med Diagn. 2010. PMID: 23496111
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
MacKenzie KC, de Graaf BM, Syrimis A, Zhao Y, Brosens E, Mancini GMS, Schot R, Halley D, Wilke M, Vøllo A, Flinter F, Green A, Mansour S, Pilch J, Stark Z, Zamba-Papanicolaou E, Christophidou-Anastasiadou V, Hofstra RMW, Jongbloed JDH, Nicolaou N, Tanteles GA, Brooks AS, Alves MM. MacKenzie KC, et al. Among authors: halley d. Hum Mutat. 2020 Nov;41(11):1906-1917. doi: 10.1002/humu.24097. Epub 2020 Sep 16. Hum Mutat. 2020. PMID: 32939943 Free PMC article.
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
Labrijn-Marks I, Somers-Bolman GM, In 't Groen SLM, Hoogeveen-Westerveld M, Kroos MA, Ala-Mello S, Amaral O, Miranda CS, Mavridou I, Michelakakis H, Naess K, Verheijen FW, Hoefsloot LH, Dijkhuizen T, Benjamins M, van den Hout HJM, van der Ploeg AT, Pijnappel WWMP, Saris JJ, Halley DJ. Labrijn-Marks I, et al. Among authors: halley dj. Eur J Hum Genet. 2019 Jun;27(6):919-927. doi: 10.1038/s41431-019-0348-y. Epub 2019 Feb 8. Eur J Hum Genet. 2019. PMID: 30737479 Free PMC article.
Development and Function of Immune Cells in an Adolescent Patient With a Deficiency in the Interleukin-10 Receptor.
Veenbergen S, van Leeuwen MA, Driessen GJ, Kersseboom R, de Ruiter LF, Raatgeep RHC, Lindenbergh-Kortleve DJ, Simons-Oosterhuis Y, Biermann K, Halley DJJ, de Ridder L, Escher JC, Samsom JN. Veenbergen S, et al. Among authors: halley djj. J Pediatr Gastroenterol Nutr. 2017 Jul;65(1):e5-e15. doi: 10.1097/MPG.0000000000001559. J Pediatr Gastroenterol Nutr. 2017. PMID: 28644354
236 results