Hasil Pencarian - Nicholas M. Allen

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  1. 1
    Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype

    Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype oleh Eoin P. Donnellan, Kathleen M. Gorman, Amre Shahwan, Nicholas M. Allen

    Diterbitkan 2024-01-01
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  2. 2
    Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C)

    Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala... oleh Rachel Stewart, Cloe Gadoud, Janusz Krawczyk, Veronica McInerney, Timothy O'Brien, Sanbing Shen, Nicholas M. Allen

    Diterbitkan 2023-09-01
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  3. 3
    Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.638C > T; p.Arg213Gln (NUIGi063-A, NUIGi063-B, NUIGi063-C) and 3 healthy controls (NUIGi064-A, NUIGi064-B, NUIGi064-C)

    Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.638C > T; p.Arg... oleh Rachel Stewart, Cloe Gadoud, Janusz Krawczyk, Veronica McInerney, Timothy O'Brien, Sanbing Shen, Nicholas M. Allen

    Diterbitkan 2023-06-01
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  4. 4
    Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)

    Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg... oleh Alessia Arbini, James Gilmore, Mary D. King, Kathleen M. Gorman, Janusz Krawczyk, Veronica McInerney, Timothy O'Brien, Sanbing Shen, Nicholas M. Allen

    Diterbitkan 2020-07-01
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  5. 5
    Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A)

    Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A) oleh Berta Marcó de la Cruz, Yicheng Ding, Veronica McInerney, Janusz Krawczyk, Yin Lu, Guangming Yang, Xiaohong Qian, Weidong Li, Linda Howard, Nicholas M. Allen, Timothy O'Brien, Louise Gallagher, Sanbing Shen

    Diterbitkan 2020-04-01
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  6. 6
    Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B)

    Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-... oleh Yicheng Ding, Aisling O'Brien, Berta Marcó de la Cruz, Meimei Yang, Jacqueline Fitzgerald, Guangming Yang, Weidong Li, Veronica McInerney, Janusz Krawczyk, Sally A. Lynch, Linda Howard, Nicholas M. Allen, Timothy O'Brien, Louise Gallagher, Sanbing Shen

    Diterbitkan 2021-04-01
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  7. 7
    Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B)

    Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi04... oleh Yicheng Ding, Aisling O'Brien, Berta Marcó de la Cruz, Meimei Yang, Yin Lu, Xiaohong Qian, Guangming Yang, Veronica McInerney, Janusz Krawczyk, Sally A. Lynch, Linda Howard, Nicholas M. Allen, Timothy O'Brien, Louise Gallagher, Sanbing Shen

    Diterbitkan 2021-05-01
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