Abbes A - Search Results

1

Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy.

Strunk A, Abbes A, Stuitje AR, Hettinga C, Sepers EM, Snetselaar R, Schouten J, Asselman FL, Cuppen I, Lemmink H, van der Pol WL, Engel H. Strunk A, et al. Among authors: abbes a. Int J Neonatal Screen. 2019 May 15;5(2):21. doi: 10.3390/ijns5020021. eCollection 2019 Jun. Int J Neonatal Screen. 2019. PMID: 33072980 Free PMC article.

2

Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0559.

Abbes AP, Engel H, Franken AA. Abbes AP, et al. Hum Genet. 2006 Feb;118(6):783. Hum Genet. 2006. PMID: 17297715 No abstract available.

3

Novel molecular defect in the platelet ADP receptor P2Y12 of a patient with haemorrhagic diathesis.

Remijn JA, IJsseldijk MJ, Strunk AL, Abbes AP, Engel H, Dikkeschei B, Dompeling EC, de Groot PG, Slingerland RJ. Remijn JA, et al. Among authors: abbes ap. Clin Chem Lab Med. 2007;45(2):187-9. doi: 10.1515/CCLM.2007.036. Clin Chem Lab Med. 2007. PMID: 17311506

4

Gene symbol: HFE2a (HJV). Disease: juvenile hemochromatosis.

Klomp C, Abbes AP, Engel H. Klomp C, et al. Among authors: abbes ap. Hum Genet. 2005 Dec;118(3-4):545-6. Hum Genet. 2005. PMID: 16521298 No abstract available.

5

Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0558.

Abbes AP, Engel H, Bruggeman EJ, Franken AA. Abbes AP, et al. Hum Genet. 2006 Feb;118(6):783. Hum Genet. 2006. PMID: 17297714 No abstract available.

6

Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0561.

Abbes AP, Engel H, Klomp C, Bruggeman EJ. Abbes AP, et al. Hum Genet. 2006 Feb;118(6):784. Hum Genet. 2006. PMID: 17297717 No abstract available.

7

Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0560.

Abbes AP, Davies JH, Penney M, Engel H, Gregory JW. Abbes AP, et al. Hum Genet. 2006 Feb;118(6):783. Hum Genet. 2006. PMID: 17297716 No abstract available.

8

An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.

Joosten H, Strunk AL, Meijer S, Boers JE, Ariës MJ, Abbes AP, Engel H, Beukhof JR. Joosten H, et al. Among authors: abbes ap. Clin Nephrol. 2010 Jun;73(6):454-72. doi: 10.5414/cnp73454. Clin Nephrol. 2010. PMID: 20497759 Review.

9

ZAP70 in B-CLL cells related to the expression in NK cells is a surrogate marker for mutational status.

Wiggers TG, Westra G, Westers TM, Abbes AP, Strunk A, Kuiper-Kramer E, Poddighe P, van de Loosdrecht AA, Chamuleau ME. Wiggers TG, et al. Among authors: abbes ap. Cytometry B Clin Cytom. 2013 Oct 1. doi: 10.1002/cytob.21132. Online ahead of print. Cytometry B Clin Cytom. 2013. PMID: 24124110 Free article.

10

ZAP70 in B-CLL cells related to the expression in NK cells is a surrogate marker for mutational status.

Wiggers TG, Westra G, Westers TM, Abbes AP, Strunk A, Kuiper-Kramer E, Poddighe P, van de Loosdrecht AA, Chamuleau ME. Wiggers TG, et al. Among authors: abbes ap. Cytometry B Clin Cytom. 2014 Jul;86(4):280-7. doi: 10.1002/cyto.b.21132. Epub 2013 Oct 8. Cytometry B Clin Cytom. 2014. PMID: 24924909 Free article.

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