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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2014 | 3 |
2017 | 1 |
2024 | 0 |
Search Results
4 results
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Page 1
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Eur J Hum Genet. 2014 Nov;22(11):1272-7. doi: 10.1038/ejhg.2013.288. Epub 2014 Jan 15.
Eur J Hum Genet. 2014.
PMID: 24424121
Free PMC article.
Novel SMAD4 mutation causing Myhre syndrome.
Caputo V, Bocchinfuso G, Castori M, Traversa A, Pizzuti A, Stella L, Grammatico P, Tartaglia M.
Caputo V, et al.
Am J Med Genet A. 2014 Jul;164A(7):1835-40. doi: 10.1002/ajmg.a.36544. Epub 2014 Apr 8.
Am J Med Genet A. 2014.
PMID: 24715504
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SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.
Piccolo P, Mithbaokar P, Sabatino V, Tolmie J, Melis D, Schiaffino MC, Filocamo M, Andria G, Brunetti-Pierri N.
Piccolo P, et al.
Eur J Hum Genet. 2014 Aug;22(8):988-94. doi: 10.1038/ejhg.2013.283. Epub 2014 Jan 8.
Eur J Hum Genet. 2014.
PMID: 24398790
Free PMC article.
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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