Beemer FA - Search Results

1

Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.

Mancini GM, Hu P, Verheijen FW, van Diggelen OP, Janse HC, Kleijer WJ, Beemer FA, Jennekens FG. Mancini GM, et al. Among authors: beemer fa. Eur J Pediatr. 1992 Aug;151(8):590-5. doi: 10.1007/BF01957729. Eur J Pediatr. 1992. PMID: 1505579

2

Prenatal diagnosis of Niemann-Pick disease type C.

de Winter JM, Janse HC, van Diggelen OP, Los FJ, Beemer FA, Kleijer WJ. de Winter JM, et al. Among authors: beemer fa. Clin Chim Acta. 1992 Jun 30;208(3):173-81. doi: 10.1016/0009-8981(92)90074-z. Clin Chim Acta. 1992. PMID: 1499136

3

Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.

Kleijer WJ, Beemer FA, Boom BW. Kleijer WJ, et al. Among authors: beemer fa. Am J Med Genet. 1994 Aug 15;52(2):227-30. doi: 10.1002/ajmg.1320520220. Am J Med Genet. 1994. PMID: 7802014

4

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.

Sjarif DR, Hellerud C, van Amstel JK, Kleijer WJ, Sperl W, Lacombe D, Sass JO, Beemer FA, Duran M, Poll-The BT. Sjarif DR, et al. Among authors: beemer fa. Eur J Hum Genet. 2004 Jun;12(6):424-32. doi: 10.1038/sj.ejhg.5201172. Eur J Hum Genet. 2004. PMID: 15026783

5

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

Sjarif DR, Sinke RJ, Duran M, Beemer FA, Kleijer WJ, Ploos van Amstel JK, Poll-The BT. Sjarif DR, et al. Among authors: beemer fa. J Med Genet. 1998 Aug;35(8):650-6. doi: 10.1136/jmg.35.8.650. J Med Genet. 1998. PMID: 9719371 Free PMC article.

6

The Dutch Uniform Multicenter Registration system for genetic disorders and malformation syndromes.

Zwamborn-Hanssen AM, Bijlsma JB, Hennekam EF, Lindhout D, Beemer FA, Bakker E, Kleijer WJ, de France HF, de Die-Smulders CE, Duran M, van Gennip AH, van Mens JT, Pearson PL, Mantel G, Verhage RE, Geraedts JP. Zwamborn-Hanssen AM, et al. Among authors: beemer fa. Am J Med Genet. 1997 Jun 27;70(4):444-7. doi: 10.1002/(sici)1096-8628(19970627)70:4<444::aid-ajmg20>3.0.co;2-g. Am J Med Genet. 1997. PMID: 9182789

7

Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: studies using cells from patients with trichothiodystrophy.

Broughton BC, Lehmann AR, Harcourt SA, Arlett CF, Sarasin A, Kleijer WJ, Beemer FA, Nairn R, Mitchell DL. Broughton BC, et al. Among authors: beemer fa. Mutat Res. 1990 Jan;235(1):33-40. doi: 10.1016/0921-8777(90)90020-6. Mutat Res. 1990. PMID: 2300071

8

Coexistence of Gaucher disease type 1 and Joubert syndrome.

van Royen-Kerkhof A, Poll-The BT, Kleijer WJ, van Diggelen OP, Aerts JM, Hopwood JJ, Beemer FA. van Royen-Kerkhof A, et al. Among authors: beemer fa. J Med Genet. 1998 Nov;35(11):965-6. doi: 10.1136/jmg.35.11.965. J Med Genet. 1998. PMID: 9832051 Free PMC article. No abstract available.

9

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.

Ausems MG, Bakker E, Berger R, Duran M, van Diggelen OP, Keulemans JL, de Valk HW, Kneppers AL, Dorland L, Eskes PF, Beemer FA, Poll-The BT, Smeitink JA. Ausems MG, et al. Among authors: beemer fa. Am J Med Genet. 1997 Jan 20;68(2):236-9. Am J Med Genet. 1997. PMID: 9028466 Free article.

10

Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency.

Ausems MG, ten Berg K, Kroos MA, van Diggelen OP, Wevers RA, Poorthuis BJ, Niezen-Koning KE, van der Ploeg AT, Beemer FA, Reuser AJ, Sandkuijl LA, Wokke JH. Ausems MG, et al. Among authors: beemer fa. Community Genet. 1999;2(2-3):91-6. doi: 10.1159/000016192. Community Genet. 1999. PMID: 15181339

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