Balmer D - Search Results

1

A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred.

Häfner FM, Salam AA, Linder TE, Balmer D, Baumer A, Schinzel AA, Spillmann T, Leal SM. Häfner FM, et al. Among authors: balmer d. Am J Hum Genet. 2000 Apr;66(4):1437-42. doi: 10.1086/302865. Epub 2000 Mar 17. Am J Hum Genet. 2000. PMID: 10739769 Free PMC article.

2

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

Baumer A, Dutly F, Balmer D, Riegel M, Tükel T, Krajewska-Walasek M, Schinzel AA. Baumer A, et al. Among authors: balmer d. Hum Mol Genet. 1998 May;7(5):887-94. doi: 10.1093/hmg/7.5.887. Hum Mol Genet. 1998. PMID: 9536094 Free article.

3

Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation.

Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A. Dutly F, et al. Among authors: balmer d. Eur J Hum Genet. 1998 Mar-Apr;6(2):140-4. doi: 10.1038/sj.ejhg.5200168. Eur J Hum Genet. 1998. PMID: 9781058

4

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.

Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A. Riegel M, et al. Among authors: balmer d. Am J Med Genet. 1999 Jan 29;82(3):249-53. doi: 10.1002/(sici)1096-8628(19990129)82:3<249::aid-ajmg10>3.0.co;2-8. Am J Med Genet. 1999. PMID: 10215549

5

Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria.

Baumer A, Balmer D, Schinzel A. Baumer A, et al. Among authors: balmer d. Hum Genet. 1999 Dec;105(6):598-602. doi: 10.1007/s004399900197. Hum Genet. 1999. PMID: 10647895 Free article.

6

Parental origin and mechanisms of formation of triploidy: a study of 25 cases.

Baumer A, Balmer D, Binkert F, Schinzel A. Baumer A, et al. Among authors: balmer d. Eur J Hum Genet. 2000 Dec;8(12):911-7. doi: 10.1038/sj.ejhg.5200572. Eur J Hum Genet. 2000. PMID: 11175278

7

Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta.

Balmer D, Baumer A, Röthlisberger B, Schinzel A. Balmer D, et al. Prenat Diagn. 1999 Nov;19(11):1061-4. doi: 10.1002/(sici)1097-0223(199911)19:11<1061::aid-pd687>3.0.co;2-q. Prenat Diagn. 1999. PMID: 10589061

8

A supernumerary marker chromosome originating from two different regions of chromosome 18.

Röthlisberger B, Chrzanowska K, Balmer D, Riegel M, Schinzel A. Röthlisberger B, et al. Among authors: balmer d. J Med Genet. 2000 Feb;37(2):121-4. doi: 10.1136/jmg.37.2.121. J Med Genet. 2000. PMID: 10662812 Free PMC article.

9

Maternal uniparental disomy 7--review and further delineation of the phenotype.

Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. Kotzot D, et al. Among authors: balmer d. Eur J Pediatr. 2000 Apr;159(4):247-56. doi: 10.1007/s004310050064. Eur J Pediatr. 2000. PMID: 10789928

10

Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes.

Röthlisberger B, Kotzot D, Brecevic L, Koehler M, Balmer D, Binkert F, Schinzel A. Röthlisberger B, et al. Among authors: balmer d. Eur J Hum Genet. 1999 Dec;7(8):873-83. doi: 10.1038/sj.ejhg.5200389. Eur J Hum Genet. 1999. PMID: 10602362

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