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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2001 | 1 |
2006 | 1 |
2010 | 1 |
2013 | 1 |
2024 | 0 |
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Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.
Nat Genet. 2001 Apr;27(4):431-4. doi: 10.1038/86941.
Nat Genet. 2001.
PMID: 11279527
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
Stum M, Davoine CS, Vicart S, Guillot-Noël L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S.
Stum M, et al.
Hum Mutat. 2006 Nov;27(11):1082-91. doi: 10.1002/humu.20388.
Hum Mutat. 2006.
PMID: 16927315
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Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.
Rieubland C, Jacquemont S, Mittaz L, Osterheld MC, Vial Y, Superti-Furga A, Unger S, Bonafé L.
Rieubland C, et al.
Eur J Med Genet. 2010 Sep-Oct;53(5):294-8. doi: 10.1016/j.ejmg.2010.06.005. Epub 2010 Jun 11.
Eur J Med Genet. 2010.
PMID: 20542149
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Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis.
Ladhani NN, Chitayat D, Nezarati MM, Laureane MC, Keating S, Silver RJ, Unger S, Velsher L, Sirkin W, Toi A, Glanc P.
Ladhani NN, et al.
Prenat Diagn. 2013 Nov;33(11):1039-43. doi: 10.1002/pd.4193. Epub 2013 Aug 4.
Prenat Diagn. 2013.
PMID: 23836246
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