Hoefsloot LH - Search Results

1

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.

Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H. Collin RW, et al. Among authors: hoefsloot lh. Hum Mutat. 2007 Jul;28(7):718-23. doi: 10.1002/humu.20510. Hum Mutat. 2007. PMID: 17373699

2

Screening male intracytoplasmic sperm injection candidates for mutations of the follicle stimulating hormone receptor gene.

Tuerlings JH, Ligtenberg MJ, Kremer JA, Siers M, Meuleman EJ, Braat DD, Hoefsloot LH, Merkus HM, Brunner HG. Tuerlings JH, et al. Among authors: hoefsloot lh. Hum Reprod. 1998 Aug;13(8):2098-101. doi: 10.1093/humrep/13.8.2098. Hum Reprod. 1998. PMID: 9756276

3

Does intracytoplasmic sperm injection lead to a rise in the frequency of microdeletions in the AZFc region of the Y chromosome in future generations?

Kremer JA, Tuerlings JH, Borm G, Hoefsloot LH, Meuleman EJ, Braat DD, Brunner HG, Merkus HM. Kremer JA, et al. Among authors: hoefsloot lh. Hum Reprod. 1998 Oct;13(1O):2808-11. doi: 10.1093/humrep/13.10.2808. Hum Reprod. 1998. PMID: 9804235

4

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.

Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns JP, Hamel B, Hoefsloot LH, Peeters EA, Padberg GW. Nelen MR, et al. Among authors: hoefsloot lh. Eur J Hum Genet. 1999 Apr;7(3):267-73. doi: 10.1038/sj.ejhg.5200289. Eur J Hum Genet. 1999. PMID: 10234502

5

[From gene to disease: deafness and connexin 26].

Hoefsloot LH, Kemperman M, Cremers CW. Hoefsloot LH, et al. Ned Tijdschr Geneeskd. 2002 Feb 9;146(6):259-61. Ned Tijdschr Geneeskd. 2002. PMID: 11865655 Dutch.

6

Hearing loss and connexin 26.

Kemperman MH, Hoefsloot LH, Cremers CW. Kemperman MH, et al. Among authors: hoefsloot lh. J R Soc Med. 2002 Apr;95(4):171-7. doi: 10.1177/014107680209500403. J R Soc Med. 2002. PMID: 11934905 Free PMC article. Review. No abstract available.

7

Clinical report on the L95P mutation in a Dutch family with paraganglioma.

Cremers CW, De Mönnink JP, Arts N, Joosten FB, Kremer H, Hoefsloot L. Cremers CW, et al. Otol Neurotol. 2002 Sep;23(5):755-9. doi: 10.1097/00129492-200209000-00024. Otol Neurotol. 2002. PMID: 12218630

8

[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa].

Cremers FP, Maugeri A, Klevering BJ, Hoefsloot LH, Hoyng CB. Cremers FP, et al. Among authors: hoefsloot lh. Ned Tijdschr Geneeskd. 2002 Aug 24;146(34):1581-4. Ned Tijdschr Geneeskd. 2002. PMID: 12224481 Review. Dutch.

9

Molecular diagnosis of hereditary hearing impairment.

Kremer H, Hoefsloot LH. Kremer H, et al. Among authors: hoefsloot lh. Adv Otorhinolaryngol. 2002;61:11-27. doi: 10.1159/000066799. Adv Otorhinolaryngol. 2002. PMID: 12408058 Review. No abstract available.

10

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H. de Brouwer AP, et al. Among authors: hoefsloot lh. Hum Genet. 2003 Feb;112(2):156-63. doi: 10.1007/s00439-002-0833-0. Epub 2002 Oct 29. Hum Genet. 2003. PMID: 12522556

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