Handig I - Search Results

1

Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.

Illsinger S, Lücke T, Peter M, Ruiter JP, Wanders RJ, Deschauer M, Handig I, Wuyts W, Das AM. Illsinger S, et al. Among authors: handig i. Am J Med Genet A. 2008 Nov 15;146A(22):2925-8. doi: 10.1002/ajmg.a.32545. Am J Med Genet A. 2008. PMID: 18925671

2

Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency.

Handig I, Dams E, Taroni F, Van Laere S, de Barsy T, Willems P J. Handig I, et al. Hum Genet. 1996 Mar;97(3):291-3. doi: 10.1007/BF02185756. Hum Genet. 1996. PMID: 8786066

3

Apparent regression of the CGG repeat in FMR1 to an allele of normal size.

Vits L, De Boulle K, Reyniers E, Handig I, Darby JK, Oostra B, Willems PJ. Vits L, et al. Among authors: handig i. Hum Genet. 1994 Nov;94(5):523-6. doi: 10.1007/BF00211019. Hum Genet. 1994. PMID: 7959688

4

Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome.

Storm K, Handig I, Reyniers E, Oostra BA, Kooy RF, Willems PJ. Storm K, et al. Among authors: handig i. Hum Genet. 1998 Jan;102(1):54-6. doi: 10.1007/s004390050653. Hum Genet. 1998. PMID: 9490298

5

Founder effect in a Belgian-Dutch fragile X population.

Buyle S, Reyniers E, Vits L, De Boulle K, Handig I, Wuyts FL, Deelen W, Halley DJ, Oostra BA, Willems PJ. Buyle S, et al. Among authors: handig i. Hum Genet. 1993 Oct 1;92(3):269-72. doi: 10.1007/BF00244471. Hum Genet. 1993. PMID: 8406435

6

Postmortem examination of two fragile X brothers with an FMR1 full mutation.

Reyniers E, Martin JJ, Cras P, Van Marck E, Handig I, Jorens HZ, Oostra BA, Kooy RF, Willems PJ. Reyniers E, et al. Among authors: handig i. Am J Med Genet. 1999 May 28;84(3):245-9. doi: 10.1002/(sici)1096-8628(19990528)84:3<245::aid-ajmg16>3.0.co;2-u. Am J Med Genet. 1999. PMID: 10331601

7

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

Van Camp G, Van Thienen MN, Handig I, Van Roy B, Rao VS, Milunsky A, Read AP, Baldwin CT, Farrer LA, Bonduelle M, et al. Van Camp G, et al. Among authors: handig i. J Med Genet. 1995 Jul;32(7):531-6. doi: 10.1136/jmg.32.7.531. J Med Genet. 1995. PMID: 7562965 Free PMC article.

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