Mächler M - Search Results

1

Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus.

Frey D, Mächler M, Seger R, Schmid W, Orkin SH. Frey D, et al. Among authors: machler m. Blood. 1988 Jan;71(1):252-5. Blood. 1988. PMID: 3334897 Free article.

2

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22.

Mächler M, Frey D, Gal A, Orth U, Wienker TF, Fanconi A, Schmid W. Mächler M, et al. Hum Genet. 1986 Jul;73(3):271-5. doi: 10.1007/BF00401243. Hum Genet. 1986. PMID: 3015771

3

A second NsiI RFLP at the CYBB locus.

Mühlebach TJ, Robinson W, Seger RA, Mächler M. Mühlebach TJ, et al. Among authors: machler m. Nucleic Acids Res. 1990 Aug 25;18(16):4966. doi: 10.1093/nar/18.16.4966-a. Nucleic Acids Res. 1990. PMID: 1975684 Free PMC article. No abstract available.

4

Linked DNA markers in clinical diagnosis of juvenile Huntington's disease.

Hammer J, Mächler M, Schmid W, Schömig-Spingler M. Hammer J, et al. Among authors: machler m. Lancet. 1987 Nov 7;2(8567):1088-9. doi: 10.1016/s0140-6736(87)91515-7. Lancet. 1987. PMID: 2889996 No abstract available.

5

[DNA diagnosis of Huntington's chorea. Application and genetic counseling in 4 involved families].

Hammer J, Mächler M, Schmid W. Hammer J, et al. Among authors: machler m. Schweiz Med Wochenschr. 1987 Dec 19;117(51):2074-80. Schweiz Med Wochenschr. 1987. PMID: 2963376 German.

6

Presymptomatic exclusion of myotonic dystrophy in a one-generation pedigree of half-siblings.

Ott J, Caesar J, Mächler M, Schinzel A, Schmid W. Ott J, et al. Among authors: machler m. Hum Hered. 1990;40(5):305-7. doi: 10.1159/000153950. Hum Hered. 1990. PMID: 2265856

7

[Neurofibromatosis Type 1: genetic studies with DNA markers in 38 families].

Spiegel R, Mächler M, Stocker HP, Boltshauser E, Schmid W. Spiegel R, et al. Among authors: machler m. Schweiz Med Wochenschr. 1991 Oct 5;121(40):1445-52. Schweiz Med Wochenschr. 1991. PMID: 1925476 German.

8

Postmortem stability of DNA.

Bär W, Kratzer A, Mächler M, Schmid W. Bär W, et al. Among authors: machler m. Forensic Sci Int. 1988 Oct;39(1):59-70. doi: 10.1016/0379-0738(88)90118-1. Forensic Sci Int. 1988. PMID: 2905319

9

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Robinson WP, Bottani A, Xie YG, Balakrishman J, Binkert F, Mächler M, Prader A, Schinzel A. Robinson WP, et al. Among authors: machler m. Am J Hum Genet. 1991 Dec;49(6):1219-34. Am J Hum Genet. 1991. PMID: 1684085 Free PMC article.

10

Neurofibromatosis type 1 in a child of a parent with segmental neurofibromatosis (NF-5).

Boltshauser E, Stocker H, Mächler M. Boltshauser E, et al. Among authors: machler m. Neurofibromatosis. 1989;2(4):244-5. Neurofibromatosis. 1989. PMID: 2517819

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