Hasil Pencarian - Dominyka Batkovskyte

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  1. 1
    A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay

    A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay oleh Cameron Young, Dominyka Batkovskyte, Miyuki Kitamura, Maria Shvedova, Yutaro Mihara, Jun Akiba, Wen Zhou, Anna Hammarsjö, Gen Nishimura, Shuichi Yatsuga, Giedre Grigelioniene, Tatsuya Kobayashi

    Diterbitkan 2023-01-01
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  2. 2
    The level of protein in the maternal murine diet modulates the facial appearance of the offspring via mTORC1 signaling

    The level of protein in the maternal murine diet modulates the facial appearance of the offspring via mTORC1 signaling oleh Meng Xie, Markéta Kaiser, Yaakov Gershtein, Daniela Schnyder, Ruslan Deviatiiarov, Guzel Gazizova, Elena Shagimardanova, Tomáš Zikmund, Greet Kerckhofs, Evgeny Ivashkin, Dominyka Batkovskyte, Phillip T. Newton, Olov Andersson, Kaj Fried, Oleg Gusev, Hugo Zeberg, Jozef Kaiser, Igor Adameyko, Andrei S. Chagin

    Diterbitkan 2024-03-01
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  3. 3
    Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

    Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13 oleh Prince Jacob, Hillevi Lindelöf, Cecilie F. Rustad, Vernon Reid Sutton, Shahida Moosa, Prajna Udupa, Anna Hammarsjö, Gandham SriLakshmi Bhavani, Dominyka Batkovskyte, Kristian Tveten, Ashwin Dalal, Eva Horemuzova, Ann Nordgren, Emma Tham, Hitesh Shah, Else Merckoll, Laura Orellana, Gen Nishimura, Katta M. Girisha, Giedre Grigelioniene

    Diterbitkan 2023-11-01
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  4. 4
    Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

    Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome oleh Alexandra Garza Flores, Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson, Daniel Nilsson, Anna Hammarsjö, Anna Hammarsjö, Anna Lindstrand, Anna Lindstrand, Dominyka Batkovskyte, Janey Wiggs, David S. Walton, Paula Goldenberg, Jesper Eisfeldt, Jesper Eisfeldt, Angela E. Lin, Ralph S. Lachman, Ralph S. Lachman, Ralph S. Lachman, Gen Nishimura, Gen Nishimura, Giedre Grigelioniene, Giedre Grigelioniene, Giedre Grigelioniene

    Diterbitkan 2023-06-01
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  5. 5
    Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

    Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders oleh Sen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, Yuzhi Zuo, Xiaoxin Li, Dominyka Batkovskyte, Sen Liu, Hillevi Lindelöf, Shengru Wang, Anna Hammarsjö, Yang Yang, Yongyu Ye, Lianlei Wang, Zihui Yan, Jiachen Lin, Chenxi Yu, Zefu Chen, Yuchen Niu, Huizi Wang, Zhi Zhao, Pengfei Liu, Guixing Qiu, Jennifer E. Posey, Zhihong Wu, James R. Lupski, Ieva Micule, Britt-Marie Anderlid, Ulrika Voss, Dennis Sulander, Ekaterina Kuchinskaya, Ann Nordgren, Ola Nilsson, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Terry Jianguo Zhang, Giedre Grigelioniene, Nan Wu

    Diterbitkan 2022-02-01
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