Cnossen MH - Search Results

1

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.

van Asperen CJ, Overweg-Plandsoen WC, Cnossen MH, van Tijn DA, Hennekam RC. van Asperen CJ, et al. Among authors: cnossen mh. J Med Genet. 1998 Apr;35(4):323-7. doi: 10.1136/jmg.35.4.323. J Med Genet. 1998. PMID: 9598729 Free PMC article.

2

Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?

Cnossen MH, van der Est MN, Breuning MH, van Asperen CJ, Breslau-Siderius EJ, van der Ploeg AT, de Goede-Bolder A, van den Ouweland AM, Halley DJ, Niermeijer MF. Cnossen MH, et al. Hum Mutat. 1997;9(5):458-64. doi: 10.1002/(SICI)1098-1004(1997)9:5<458::AID-HUMU13>3.0.CO;2-1. Hum Mutat. 1997. PMID: 9143927

3

Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's Hospital.

Cnossen MH, Moons KG, Garssen MP, Pasmans NM, de Goede-Bolder A, Niermeijer MF, Grobbee DE. Cnossen MH, et al. J Med Genet. 1998 Aug;35(8):624-7. doi: 10.1136/jmg.35.8.624. J Med Genet. 1998. PMID: 9719365 Free PMC article.

4

Diagnostic delay in neurofibromatosis type 1.

Cnossen MH, Smit FJ, de Goede-Bolder A, Frets PG, Duivenvoorden HJ, Niermeijer MF. Cnossen MH, et al. Eur J Pediatr. 1997 Jun;156(6):482-7. doi: 10.1007/s004310050644. Eur J Pediatr. 1997. PMID: 9208248

5

[From gene to disease; neurofibromatosis type 1].

de Goede-Bolder A, Cnossen MH, Dooijes D, van den Ouweland AM, Niermeijer MF. de Goede-Bolder A, et al. Among authors: cnossen mh. Ned Tijdschr Geneeskd. 2001 Sep 8;145(36):1736-8. Ned Tijdschr Geneeskd. 2001. PMID: 11572174 Review. Dutch.

6

Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1.

Cnossen MH, Stam EN, Cooiman LC, Simonsz HJ, Stroink H, Oranje AP, Halley DJ, de Goede-Bolder A, Niermeijer MF, de Muinck Keizer-Schrama SM. Cnossen MH, et al. Pediatrics. 1997 Oct;100(4):667-70. doi: 10.1542/peds.100.4.667. Pediatrics. 1997. PMID: 9310522 Free article. Review.

7

A prospective 10 year follow up study of patients with neurofibromatosis type 1.

Cnossen MH, de Goede-Bolder A, van den Broek KM, Waasdorp CM, Oranje AP, Stroink H, Simonsz HJ, van den Ouweland AM, Halley DJ, Niermeijer MF. Cnossen MH, et al. Arch Dis Child. 1998 May;78(5):408-12. doi: 10.1136/adc.78.5.408. Arch Dis Child. 1998. PMID: 9659085 Free PMC article.

8

Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening.

Giordano PC, Cnossen MH, Joosten AM, Jansen CA, Hakvoort TE, Bakker-Verweij M, Arkesteijn SG, van Delft P, Waye JS, Bouva MJ, Harteveld CL. Giordano PC, et al. Among authors: cnossen mh. Hemoglobin. 2010;34(4):354-65. doi: 10.3109/03630269.2010.486341. Hemoglobin. 2010. PMID: 20642333

9

The group medical appointment (GMA) in haemophilia and von Willebrand's disease: a new development in outpatient paediatric care.

Lock J, De Bruin A, Scholten M, Joosten M, Seesing FM, Beishuizen A, De Goede-Bolder A, Cnossen MH. Lock J, et al. Among authors: cnossen mh. Haemophilia. 2012 Sep;18(5):766-72. doi: 10.1111/j.1365-2516.2012.02783.x. Epub 2012 Mar 28. Haemophilia. 2012. PMID: 22458923

10

[Sickle cell disease in heel injection screening. I].

Peters M, Appel IM, Cnossen MH, Breuning-Boers JM, Heijboer H. Peters M, et al. Among authors: cnossen mh. Ned Tijdschr Geneeskd. 2009 May 2;153(18):854-7. Ned Tijdschr Geneeskd. 2009. PMID: 19475863 Dutch. No abstract available.

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