Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 7

Results: 9
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    De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.

    Published in:
    Human Genetics, 2023, v. 142, n. 7, p. 949, doi. 10.1007/s00439-023-02569-7
    By:
    • Smits, Daphne J.;
    • Schot, Rachel;
    • Popescu, Cristiana A.;
    • Dias, Kerith-Rae;
    • Ades, Lesley;
    • Briere, Lauren C.;
    • Sweetser, David A.;
    • Kushima, Itaru;
    • Aleksic, Branko;
    • Khan, Suliman;
    • Karageorgou, Vasiliki;
    • Ordonez, Natalia;
    • Sleutels, Frank J. G. T.;
    • van der Kaay, Daniëlle C. M.;
    • Van Mol, Christine;
    • Van Esch, Hilde;
    • Bertoli-Avella, Aida M.;
    • Roscioli, Tony;
    • Mancini, Grazia M. S.
    Publication type:
    Article
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    Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.

    Published in:
    Human Genetics, 2023, v. 142, n. 7, p. 879, doi. 10.1007/s00439-023-02563-z
    By:
    • Bakhshalizadeh, Shabnam;
    • Hock, Daniella H.;
    • Siddall, Nicole A.;
    • Kline, Brianna L.;
    • Sreenivasan, Rajini;
    • Bell, Katrina M.;
    • Casagranda, Franca;
    • Kamalanathan, Sadishkumar;
    • Sahoo, Jayaprakash;
    • Narayanan, Niya;
    • Naik, Dukhabandhu;
    • Suryadevara, Varun;
    • Compton, Alison G.;
    • Amarasekera, Sumudu S. C.;
    • Kapoor, Ridam;
    • Jaillard, Sylvie;
    • Simpson, Andrea;
    • Robevska, Gorjana;
    • van den Bergen, Jocelyn;
    • Pachernegg, Svenja
    Publication type:
    Article
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    Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

    Published in:
    Human Genetics, 2023, v. 142, n. 7, p. 909, doi. 10.1007/s00439-023-02552-2
    By:
    • D'Onofrio, Gianluca;
    • Accogli, Andrea;
    • Severino, Mariasavina;
    • Caliskan, Haluk;
    • Kokotović, Tomislav;
    • Blazekovic, Antonela;
    • Jercic, Kristina Gotovac;
    • Markovic, Silvana;
    • Zigman, Tamara;
    • Goran, Krnjak;
    • Barišić, Nina;
    • Duranovic, Vlasta;
    • Ban, Ana;
    • Borovecki, Fran;
    • Ramadža, Danijela Petković;
    • Barić, Ivo;
    • Fazeli, Walid;
    • Herkenrath, Peter;
    • Marini, Carla;
    • Vittorini, Roberta
    Publication type:
    Article