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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2009 | 2 |
2010 | 5 |
2024 | 0 |
Search Results
6 results
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Page 1
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
Am J Med Genet A. 2010 Aug;152A(8):1994-2001. doi: 10.1002/ajmg.a.33509.
Am J Med Genet A. 2010.
PMID: 20635355
Free PMC article.
Clinical Trial.
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P.
Szafranski P, et al.
Hum Mutat. 2010 Jul;31(7):840-50. doi: 10.1002/humu.21284.
Hum Mutat. 2010.
PMID: 20506139
Free PMC article.
Item in Clipboard
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.
Shinawi M, et al.
J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12.
J Med Genet. 2010.
PMID: 19914906
Free PMC article.
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Detection of clinically relevant exonic copy-number changes by array CGH.
Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P.
Boone PM, et al.
Hum Mutat. 2010 Dec;31(12):1326-42. doi: 10.1002/humu.21360. Epub 2010 Nov 2.
Hum Mutat. 2010.
PMID: 20848651
Free PMC article.
Item in Clipboard
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA 3rd, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T.
Dhar SU, et al.
Am J Med Genet A. 2010 Mar;152A(3):573-81. doi: 10.1002/ajmg.a.33253.
Am J Med Genet A. 2010.
PMID: 20186804
Free PMC article.
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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P.
Shinawi M, et al.
Nat Genet. 2009 Dec;41(12):1269-71. doi: 10.1038/ng.481. Epub 2009 Nov 8.
Nat Genet. 2009.
PMID: 19898479
Free PMC article.
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