Engel H - 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: engel h. 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. Among authors: engel h. 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: engel h. 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: engel h. 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. Among authors: engel h. Hum Genet. 2006 Feb;118(6):783. Hum Genet. 2006. PMID: 17297714 No abstract available.

6

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

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

7

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

Abbes AP, Engel H, Klomp C, Bruggeman EJ. Abbes AP, et al. Among authors: engel h. Hum Genet. 2006 Feb;118(6):784. Hum Genet. 2006. PMID: 17297717 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: engel h. Clin Nephrol. 2010 Jun;73(6):454-72. doi: 10.5414/cnp73454. Clin Nephrol. 2010. PMID: 20497759 Review.

9

Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two dutch families with familial neurohypophyseal diabetes insipidus.

Abbes AP, Bruggeman B, van Den Akker EL, de Groot MR, Franken AA, Drexhage VR, Engel H. Abbes AP, et al. Among authors: engel h. Clin Chem. 2000 Oct;46(10):1699-702. Clin Chem. 2000. PMID: 11017955 No abstract available.

10

Minor disturbances in central nervous system function in familial neurohypophysial diabetes insipidus.

Bruins J, Kovács GL, Abbes AP, Burbach JP, van den Akker EL, Engel H, Franken AA, de Wied D. Bruins J, et al. Among authors: engel h. Psychoneuroendocrinology. 2006 Jan;31(1):80-91. doi: 10.1016/j.psyneuen.2005.06.001. Epub 2005 Aug 25. Psychoneuroendocrinology. 2006. PMID: 16125866

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