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Journal Abstract Search

552 related items for PubMed ID: 23603762

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  • 2. Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.
    Saillour Y, Broix L, Bruel-Jungerman E, Lebrun N, Muraca G, Rucci J, Poirier K, Belvindrah R, Francis F, Chelly J.
    Hum Mol Genet; 2014 Mar 15; 23(6):1516-26. PubMed ID: 24179174
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  • 5. Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD).
    Duquesne S, Nassogne MC, Clapuyt P, Stouffs K, Sznajer Y.
    Eur J Med Genet; 2020 Sep 15; 63(9):103991. PubMed ID: 32562872
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  • 11. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
    Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, Gambin T, Wlasienko P, Goszczanska-Ciuchta A, Bekiesinska-Figatowska M, Hosseini M, Arzhangi S, Najmabadi H, Rosenfeld JA, Du H, Marafi D, Blaser S, Teitelbaum R, Silver R, Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Ropers HH, Gibbs RA, Wiszniewski W, Lupski JR, Chitayat D, Kahrizi K, Gawlinski P.
    Am J Hum Genet; 2019 Nov 07; 105(5):1005-1015. PubMed ID: 31630790
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  • 12. Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
    Hatano M, Fukushima H, Ohto T, Ueno Y, Saeki S, Enokizono T, Tanaka R, Tanaka M, Imagawa K, Kanai Y, Kato M, Shiraku H, Suzuki H, Uehara T, Takenouchi T, Kosaki K, Takada H.
    Am J Med Genet A; 2021 Apr 07; 185(4):1113-1119. PubMed ID: 33506645
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  • 13. Two cases of DYNC1H1 mutations with intractable epilepsy.
    Matsumoto A, Kojima K, Miya F, Miyauchi A, Watanabe K, Iwamoto S, Kawai K, Kato M, Takahashi Y, Yamagata T.
    Brain Dev; 2021 Sep 07; 43(8):857-862. PubMed ID: 34092403
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  • 18. Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
    Brock S, Stouffs K, Scalais E, D'Hooghe M, Keymolen K, Guerrini R, Dobyns WB, Di Donato N, Jansen AC.
    Eur J Hum Genet; 2018 Aug 07; 26(8):1132-1142. PubMed ID: 29706637
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  • 20. TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity.
    Aiken J, Moore JK, Bates EA.
    Hum Mol Genet; 2019 Apr 15; 28(8):1227-1243. PubMed ID: 30517687
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