Hasil Pencarian - Nicolas Chrestian

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  1. 1
    Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

    Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report oleh Vincent Picher-Martel, Yvan Labrie, Serge Rivest, Baiba Lace, Nicolas Chrestian

    Diterbitkan 2020-02-01
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  2. 2
    A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy

    A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy oleh Nathalie Laflamme, Baiba Lace, Samarth Thonta Setty, Nadie Rioux, Yvan Labrie, Arnaud Droit, Nicolas Chrestian, Serge Rivest

    Diterbitkan 2021-06-01
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  3. 3
    Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases

    Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases oleh Sarah Alsubhi, Bradley Osterman, Nicolas Chrestian, François Dubeau, Daniela Buhas, Daniela Buhas, Myriam Srour, Myriam Srour, Myriam Srour

    Diterbitkan 2022-10-01
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  4. 4
    A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy

    A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy oleh Maitou Pal, Baiba Lace, Yvan Labrie, Nathalie Laflamme, Nadie Rioux, Samarth Thonta Setty, Marc‐Andre Dugas, Louise Gosselin, Arnaud Droit, Nicolas Chrestian, Serge Rivest

    Diterbitkan 2021-05-01
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  5. 5
    Case Report: Two Families With HPDL Related Neurodegeneration

    Case Report: Two Families With HPDL Related Neurodegeneration oleh Ieva Micule, Ieva Micule, Baiba Lace, Baiba Lace, Baiba Lace, Nathan T. Wright, Nicolas Chrestian, Jurgis Strautmanis, Mikus Diriks, Janis Stavusis, Dita Kidere, Elfa Kleina, Anna Zdanovica, Nataly Laflamme, Nadie Rioux, Samarth Thonta Setty, Sander Pajusalu, Sander Pajusalu, Sander Pajusalu, Arnaud Droit, Monkol Lek, Serge Rivest, Inna Inashkina

    Diterbitkan 2022-02-01
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