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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2005 | 1 |
2019 | 1 |
2021 | 1 |
2024 | 0 |
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Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy.
Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):230-244. doi: 10.1002/ajmg.c.31704. Epub 2019 May 13.
Am J Med Genet C Semin Med Genet. 2019.
PMID: 31081998
Review.
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Kuseyri Hübschmann O, Horvath G, Cortès-Saladelafont E, Yıldız Y, Mastrangelo M, Pons R, Friedman J, Mercimek-Andrews S, Wong SN, Pearson TS, Zafeiriou DI, Kulhánek J, Kurian MA, López-Laso E, Oppebøen M, Kılavuz S, Wassenberg T, Goez H, Scholl-Bürgi S, Porta F, Honzík T, Santer R, Burlina A, Sivri HS, Leuzzi V, Hoffmann GF, Jeltsch K, Hübschmann D, Garbade SF; iNTD Registry Study Group; García-Cazorla A, Opladen T.
Kuseyri Hübschmann O, et al.
Nat Commun. 2021 Sep 20;12(1):5529. doi: 10.1038/s41467-021-25515-5.
Nat Commun. 2021.
PMID: 34545092
Free PMC article.
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Adult polyglucosan body disease: a case report of a manifesting heterozygote.
Ubogu EE, Hong ST, Akman HO, Dimauro S, Katirji B, Preston DC, Shapiro BE.
Ubogu EE, et al.
Muscle Nerve. 2005 Nov;32(5):675-81. doi: 10.1002/mus.20384.
Muscle Nerve. 2005.
PMID: 16007674
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