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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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2006 | 1 |
2008 | 1 |
2009 | 2 |
2011 | 1 |
2024 | 0 |
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5 results
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Page 1
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.
Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):113-20. doi: 10.1002/ajmg.c.30091.
Am J Med Genet C Semin Med Genet. 2006.
PMID: 16602094
Free PMC article.
Review.
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.
Item in Clipboard
High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.
Stewart LR, Hall AL, Kang SH, Shaw CA, Beaudet AL.
Stewart LR, et al.
BMC Med Genet. 2011 Nov 25;12:154. doi: 10.1186/1471-2350-12-154.
BMC Med Genet. 2011.
PMID: 22118685
Free PMC article.
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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T.
Ben-Shachar S, et al.
J Med Genet. 2009 Jun;46(6):382-8. doi: 10.1136/jmg.2008.064378. Epub 2009 Mar 15.
J Med Genet. 2009.
PMID: 19289393
Free PMC article.
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Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL.
Sahoo T, et al.
Nat Genet. 2008 Jun;40(6):719-21. doi: 10.1038/ng.158. Epub 2008 May 25.
Nat Genet. 2008.
PMID: 18500341
Free PMC article.
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