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A newly discovered TSHR variant (L665F) associated with nonautoimmune hyperthyroidism in an Austrian family induces constitutive TSHR activation by steric repulsion between TM1 and TM7.
J Clin Endocrinol Metab. 2014 Oct;99(10):E2051-9. doi: 10.1210/jc.2014-1436. Epub 2014 Jun 20.
J Clin Endocrinol Metab. 2014.
PMID: 24947036
Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis.
Grossmann V, Höckner M, Karmous-Benailly H, Liang D, Puttinger R, Quadrelli R, Röthlisberger B, Huber A, Wu L, Spreiz A, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D.
Grossmann V, et al. Among authors: puttinger r.
Clin Genet. 2010 Dec;78(6):548-53. doi: 10.1111/j.1399-0004.2010.01419.x.
Clin Genet. 2010.
PMID: 20584030
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Importance of genetic diagnosis of DAX-1 deficiency: example from a large, multigenerational family.
Ostermann S, Salvi R, Lang-Muritano M, Voirol MJ, Puttinger R, Gaillard RC, Schoenle E, Pralong FP.
Ostermann S, et al. Among authors: puttinger r.
Horm Res. 2006;65(4):163-8. doi: 10.1159/000091831.
Horm Res. 2006.
PMID: 16514244
Free article.
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Identification of eight novel NSD1 mutations in Sotos syndrome.
Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N.
Kamimura J, et al. Among authors: puttinger r.
J Med Genet. 2003 Nov;40(11):e126. doi: 10.1136/jmg.40.11.e126.
J Med Genet. 2003.
PMID: 14627693
Free PMC article.
No abstract available.
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Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency.
Sass JO, Kishikawa M, Puttinger R, Reiss J, Erwa W, Shimizu A, Sperl W.
Sass JO, et al. Among authors: puttinger r.
J Inherit Metab Dis. 2003;26(1):80-2. doi: 10.1023/a:1024091900547.
J Inherit Metab Dis. 2003.
PMID: 12872846
No abstract available.
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Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa?
Klausegger A, Pulkkinen L, Pohla-Gubo G, Dallinger G, Puttinger R, Uitto J, Hintner H, Bauer JW.
Klausegger A, et al. Among authors: puttinger r.
J Invest Dermatol. 2001 Mar;116(3):474-5. doi: 10.1046/j.1523-1747.2001.12793.x.
J Invest Dermatol. 2001.
PMID: 11231327
Free article.
No abstract available.
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Fatal arthrogryposis with respiratory insufficiency: a possible case of muscle phosphorylase b-kinase deficiency.
Shin YS, Plöchl E, Podskarbi T, Muss W, Pilz P, Puttinger R.
Shin YS, et al. Among authors: puttinger r.
J Inherit Metab Dis. 1994;17(1):153-5. doi: 10.1007/BF00735424.
J Inherit Metab Dis. 1994.
PMID: 8051930
No abstract available.
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