Kroes HY - Search Results

1

Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32).

Kroes HY, Tuerlings JH, Hordijk R, Folkers NR, ten Kate LP. Kroes HY, et al. J Med Genet. 1994 Feb;31(2):156-8. doi: 10.1136/jmg.31.2.156. J Med Genet. 1994. PMID: 8182726 Free PMC article. Review.

2

Evaluation of the contents of mineral water, spring water, table water and spa water.

Willershausen B, Kroes H, Brandenbusch M. Willershausen B, et al. Eur J Med Res. 2000 Jun 20;5(6):251-62. Eur J Med Res. 2000. PMID: 10882641

3

[Carrier detection in cystic fibrosis. Various illustrative examples].

Kroes HY, Scheffer H, ten Kate LP. Kroes HY, et al. Tijdschr Kindergeneeskd. 1992 Dec;60(6):226-30. Tijdschr Kindergeneeskd. 1992. PMID: 1488735 Dutch.

4

Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.

Rust S, Walter M, Funke H, von Eckardstein A, Cullen P, Kroes HY, Hordijk R, Geisel J, Kastelein J, Molhuizen HO, Schreiner M, Mischke A, Hahmann HW, Assmann G. Rust S, et al. Among authors: kroes hy. Nat Genet. 1998 Sep;20(1):96-8. doi: 10.1038/1770. Nat Genet. 1998. PMID: 9731541

5

Two cases of the caudal duplication anomaly including a discordant monozygotic twin.

Kroes HY, Takahashi M, Zijlstra RJ, Baert JA, Kooi KA, Hofstra RM, van Essen AJ. Kroes HY, et al. Am J Med Genet. 2002 Nov 1;112(4):390-3. doi: 10.1002/ajmg.10594. Am J Med Genet. 2002. PMID: 12376942

6

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome.

Kroes HY, Nievelstein RJ, Barth PG, Nikkels PG, Bergmann C, Gooskens RH, Visser G, van Amstel HK, Beemer FA. Kroes HY, et al. Am J Med Genet A. 2005 Jun 15;135(3):297-301. doi: 10.1002/ajmg.a.30690. Am J Med Genet A. 2005. PMID: 15887274

7

Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33).

Poot M, Kroes HY, V D Wijst SE, Eleveld MJ, Rooms L, Nievelstein RA, Olde Weghuis D, Vreuls RC, Hageman G, Kooy F, Hochstenbach R. Poot M, et al. Among authors: kroes hy. Am J Med Genet A. 2007 May 15;143A(10):1038-44. doi: 10.1002/ajmg.a.31690. Am J Med Genet A. 2007. PMID: 17431901

8

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ. Kroes HY, et al. Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. doi: 10.1016/j.ejmg.2007.10.001. Epub 2007 Oct 6. Eur J Med Genet. 2008. PMID: 18054307

9

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tönnies H, van 't Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M. Caliebe A, et al. Among authors: kroes hy. Eur J Med Genet. 2010 Jul-Aug;53(4):179-85. doi: 10.1016/j.ejmg.2010.04.001. Epub 2010 Apr 9. Eur J Med Genet. 2010. PMID: 20382278

10

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D. Slaats GG, et al. Among authors: kroes hy. J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21. J Med Genet. 2016. PMID: 26490104 Free PMC article.

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