Maat-Kievit JA - Search Results

1

A large retinoblastoma detected in a fetus at 21 weeks of gestation.

Maat-Kievit JA, Oepkes D, Hartwig NG, Vermeij-Keers C, van Kamp IL, van de Kamp JJ. Maat-Kievit JA, et al. Prenat Diagn. 1993 May;13(5):377-84. doi: 10.1002/pd.1970130510. Prenat Diagn. 1993. PMID: 8341636

2

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008.

van Rij MC, de Koning Gans PA, Aalfs CM, Elting M, Ippel PF, Maat-Kievit JA, Vermeer S, Verschuuren-Bemelmans CC, van Belzen MJ, Belfroid RD, Losekoot M, Geraedts JP, Roos RA, Tibben A, de Die-Smulders CE, Bijlsma EK. van Rij MC, et al. Among authors: maat kievit ja. Clin Genet. 2014 Jan;85(1):78-86. doi: 10.1111/cge.12090. Epub 2013 Mar 27. Clin Genet. 2014. PMID: 23350614

3

[Phenylketonuria in spite of screening].

Maaswinkel-Mooij PD, Kist-van Holthe tot Echten JE, Maat-Kievit JA. Maaswinkel-Mooij PD, et al. Ned Tijdschr Geneeskd. 1993 Aug 21;137(34):1727-9. Ned Tijdschr Geneeskd. 1993. PMID: 7690466 Dutch.

4

Total situs inversus associated with the oculo-auriculo-vertebral spectrum.

Maat-Kievit JA, Baraitser M, Winter RM. Maat-Kievit JA, et al. Clin Dysmorphol. 1994 Jan;3(1):82-6. Clin Dysmorphol. 1994. PMID: 8205328

5

Family history and DNA analysis in patients with suspected Huntington's disease.

Siesling S, Vegter-van de Vlis M, Losekoot M, Belfroid RD, Maat-Kievit JA, Kremer HP, Roos RA. Siesling S, et al. J Neurol Neurosurg Psychiatry. 2000 Jul;69(1):54-9. doi: 10.1136/jnnp.69.1.54. J Neurol Neurosurg Psychiatry. 2000. PMID: 10864604 Free PMC article.

6

[From gene to disease; HD gene and Huntington disease].

Maat-Kievit JA, Losekoot M, Roos RA. Maat-Kievit JA, et al. Ned Tijdschr Geneeskd. 2001 Nov 3;145(44):2120-3. Ned Tijdschr Geneeskd. 2001. PMID: 11723754 Review. Dutch.

7

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, Scheffer H, Brunt ER, Ippel PF, Maat-Kievit JA, Dooijes D, Notermans NC, Lindhout D, Knoers NV, Kremer HP. van de Warrenburg BP, et al. Among authors: maat kievit ja. Neurology. 2002 Mar 12;58(5):702-8. doi: 10.1212/wnl.58.5.702. Neurology. 2002. PMID: 11889231

8

Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities.

Helderman-van den Enden AT, Maaswinkel-Mooij PD, Hoogendoorn E, Willemsen R, Maat-Kievit JA, Losekoot M, Oostra BA. Helderman-van den Enden AT, et al. J Med Genet. 1999 Mar;36(3):253-7. J Med Genet. 1999. PMID: 10204857 Free PMC article.

9

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.

Elfferich P, Verleun-Mooijman MC, Maat-Kievit JA, van de Warrenburg BP, Abdo WF, Eshuis SA, Leenders KL, Hovestadt A, Zijlmans JC, Stroy JP, van Swieten JC, Boon AJ, van Engelen K, Verschuuren-Bemelmans CC, Lesnik-Oberstein SA, Tassorelli C, Lopiano L, Bonifati V, Dooijes D, van Minkelen R. Elfferich P, et al. Among authors: maat kievit ja. Neurogenetics. 2011 Nov;12(4):263-71. doi: 10.1007/s10048-011-0302-9. Epub 2011 Oct 13. Neurogenetics. 2011. PMID: 21993715 Free PMC article.

10

Diagnosis and management of early- and late-onset cerebellar ataxia.

Brusse E, Maat-Kievit JA, van Swieten JC. Brusse E, et al. Among authors: maat kievit ja. Clin Genet. 2007 Jan;71(1):12-24. doi: 10.1111/j.1399-0004.2006.00722.x. Clin Genet. 2007. PMID: 17204042 Review.

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