Schmidtke J - Search Results

1

Alternative splicing in the first nucleotide binding fold of CFTR.

Will K, Stuhrmann M, Dean M, Schmidtke J. Will K, et al. Among authors: schmidtke j. Hum Mol Genet. 1993 Mar;2(3):231-5. doi: 10.1093/hmg/2.3.231. Hum Mol Genet. 1993. PMID: 7684642

2

Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection.

el-Aleem AA, Böhm I, Temtamy S, el-Awady M, Awadalla M, Schmidtke J, Stuhrmann M. el-Aleem AA, et al. Among authors: schmidtke j. Hum Genet. 1995 Nov;96(5):577-84. doi: 10.1007/BF00197414. Hum Genet. 1995. PMID: 8530006

3

Geographic distribution and origin of CFTR mutations in Germany.

Tümmler B, Storrs T, Dziadek V, Dörk T, Meitinger T, Golla A, Bertele-Harms RM, Harms HK, Schröder E, Claass A, Rutjes J, Schneppenheim R, Bauer I, Breuel K, Stuhrmann M, Schmidtke J, Lindner M, Eigel A, Horst J, Kaiser R, Lentze MJ, Schmidt K, von der Hardt H, Estivill X. Tümmler B, et al. Among authors: schmidtke j. Hum Genet. 1996 Jun;97(6):727-31. doi: 10.1007/BF02346181. Hum Genet. 1996. PMID: 8641688

4

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M. Dörk T, et al. Among authors: schmidtke j. Hum Genet. 1997 Sep;100(3-4):365-77. doi: 10.1007/s004390050518. Hum Genet. 1997. PMID: 9272157

5

Detection of 100% of the CFTR mutations in 63 CF families from Tyrol.

Stuhrmann M, Dörk T, Frühwirth M, Golla A, Skawran B, Antonin W, Ebhardt M, Loos A, Ellemunter H, Schmidtke J. Stuhrmann M, et al. Among authors: schmidtke j. Clin Genet. 1997 Oct;52(4):240-6. doi: 10.1111/j.1399-0004.1997.tb02555.x. Clin Genet. 1997. PMID: 9383031

6

Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.

el-Harith EA, Dörk T, Stuhrmann M, Abu-Srair H, al-Shahri A, Keller KM, Lentze MJ, Schmidtke J. el-Harith EA, et al. Among authors: schmidtke j. J Med Genet. 1997 Dec;34(12):996-9. doi: 10.1136/jmg.34.12.996. J Med Genet. 1997. PMID: 9429141 Free PMC article.

7

A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.

Dörk T, Kälin N, Stuhrmann M, Schmidtke J, Tümmler B. Dörk T, et al. Among authors: schmidtke j. Hum Genet. 1992 Nov;90(3):279-84. doi: 10.1007/BF00220079. Hum Genet. 1992. PMID: 1283149

8

Missense variation of the CFTR gene codon 507.

Will K, Stuhrmann M, Ellemunter H, Hoffknecht N, Schmidtke J. Will K, et al. Among authors: schmidtke j. Hum Mutat. 1992;1(2):165. doi: 10.1002/humu.1380010213. Hum Mutat. 1992. PMID: 1284478 No abstract available.

9

A cystic fibrosis patient homozygous for the nonsense mutation R553X.

Bal J, Stuhrmann M, Schloesser M, Schmidtke J, Reiss J. Bal J, et al. Among authors: schmidtke j. J Med Genet. 1991 Oct;28(10):715-7. doi: 10.1136/jmg.28.10.715. J Med Genet. 1991. PMID: 1682496 Free PMC article.

10

Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients.

Hundrieser J, Bremer S, Peinemann F, Stuhrmann M, Hoffknecht N, Wulf B, Schmidtke J, Reiss J, Maass G, Tümmler B. Hundrieser J, et al. Among authors: schmidtke j. Hum Genet. 1990 Sep;85(4):409-10. doi: 10.1007/BF02428283. Hum Genet. 1990. PMID: 2210752

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