Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 11

Results: 46
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    Three decades of the Human Genome Organization.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3314, doi. 10.1002/ajmg.a.62512
    By:
    • Lee, Charles;
    • Antonarakis, Stylianos E.;
    • Hamosh, Ada;
    • Burn, John
    Publication type:
    Article
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    A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3494, doi. 10.1002/ajmg.a.62474
    By:
    • Ziburová, Jana;
    • Nemčovič, Marek;
    • Šesták, Sergej;
    • Bellová, Jana;
    • Pakanová, Zuzana;
    • Siváková, Barbara;
    • Šalingová, Anna;
    • Šebová, Claudia;
    • Ostrožlíková, Mária;
    • Lekka, Dimitra‐Evanthia;
    • Brucknerová, Jana;
    • Brucknerová, Ingrid;
    • Skokňová, Martina;
    • Mc Cullough, Alexandra;
    • Hrčková, Gabriela;
    • Hlavatá, Anna;
    • Bzdúch, Vladimír;
    • Mucha, Ján;
    • Baráth, Peter
    Publication type:
    Article
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    Survival outcomes of very low birth weight infants with trisomy 18.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3459, doi. 10.1002/ajmg.a.62466
    By:
    • Inoue, Hirosuke;
    • Matsunaga, Yuka;
    • Sawano, Toru;
    • Fujiyoshi, Junko;
    • Kinjo, Tadamune;
    • Ochiai, Masayuki;
    • Nagata, Kouji;
    • Matsuura, Toshiharu;
    • Taguchi, Tomoaki;
    • Ohga, Shouichi
    Publication type:
    Article
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    Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3446, doi. 10.1002/ajmg.a.62465
    By:
    • Schirwani, Schaida;
    • Albaba, Shadi;
    • Carere, Deanna Alexis;
    • Guillen Sacoto, Maria J.;
    • Milan Zamora, Francisca;
    • Si, Yue;
    • Rabin, Rachel;
    • Pappas, John;
    • Renaud, Deborah L.;
    • Hauser, Natalie;
    • Reid, Evan;
    • Blanchet, Patricia;
    • Foulds, Nichola;
    • Dixit, Abhijit;
    • Fisher, Richard;
    • Armstrong, Ruth;
    • Isidor, Bertrand;
    • Cogne, Benjamin;
    • Schrier Vergano, Samantha;
    • Demirdas, Serwet
    Publication type:
    Article
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    Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3390, doi. 10.1002/ajmg.a.62456
    By:
    • Warshauer, Emily Mira;
    • Brown, Adam;
    • Fuentes, Ignacia;
    • Shortt, Jonathan;
    • Gignoux, Chris;
    • Montinaro, Francesco;
    • Metspalu, Mait;
    • Youssefian, Leila;
    • Vahidnezhad, Hassan;
    • Jacków, Joanna;
    • Christiano, Angela M.;
    • Uitto, Jouni;
    • Fajardo‐Ramírez, Óscar R.;
    • Salas‐Alanis, Julio C.;
    • McGrath, John A.;
    • Consuegra, Liliana;
    • Rivera, Carolina;
    • Maier, Paul A.;
    • Runfeldt, Goran;
    • Behar, Doron M.
    Publication type:
    Article
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    Victor McKusick and his short course.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3242, doi. 10.1002/ajmg.a.62435
    By:
    • Wray, Charles;
    • Cox, Gregory;
    • Valle, David
    Publication type:
    Article
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    Memories of Victor A. McKusick.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3377, doi. 10.1002/ajmg.a.62431
    By:
    • Rasmussen, Sonja A.;
    • Hamosh, Ada
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3187, doi. 10.1002/ajmg.a.61707
    Publication type:
    Article
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    Publication schedule for 2021.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3183, doi. 10.1002/ajmg.a.61704
    Publication type:
    Article
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