Works matching IS 00099163 AND DT 2024 AND VI 106 AND IP 1

Results: 15
    1

    FGF12 copy number variant associated with epileptic encephalopathy.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 1, p. 114, doi. 10.1111/cge.14542
    By:
    • Abraham, Anna;
    • Ramsey, Keri;
    • Belnap, Newell;
    • Szelinger, Szabolcs;
    • Jepsen, Wayne;
    • Balak, Chris;
    • Sanchez‐Castillo, Meredith;
    • Naymik, Marcus;
    • Bonfitto, Anna;
    • Rangasamy, Sampathkumar;
    • Kruglyak, Semyon;
    • Huentelman, Matthew;
    • Narayanan, Vinodh
    Publication type:
    Article
    2

    Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 1, p. 13, doi. 10.1111/cge.14533
    By:
    • Giardina, Emiliano;
    • Camaño, Pilar;
    • Burton‐Jones, Sarah;
    • Ravenscroft, Gina;
    • Henning, Franclo;
    • Magdinier, Frederique;
    • van der Stoep, Nienke;
    • van der Vliet, Patrick J.;
    • Bernard, Rafaëlle;
    • Tomaselli, Pedro J.;
    • Davis, Mark R.;
    • Nishino, Ichizo;
    • Oflazer, Piraye;
    • Race, Valerie;
    • Vishnu, Venugopalan Y.;
    • Williams, Victoria;
    • Sobreira, Cláudia F. R.;
    • van der Maarel, Silvere M.;
    • Moore, Steve A.;
    • Voermans, Nicol C.
    Publication type:
    Article
    3
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    Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 1, p. 102, doi. 10.1111/cge.14526
    By:
    • Jordan, Pénélope;
    • Verebi, Camille;
    • Hervé, Bérénice;
    • Perol, Sandrine;
    • Chakhtoura, Zeina;
    • Courtillot, Carine;
    • Bachelot, Anne;
    • Karila, Daphné;
    • Renard, Céline;
    • Grouthier, Virginie;
    • de la Croix, Stanislas Mulot;
    • Bernard, Valérie;
    • Fouveaut, Corinne;
    • de la Perrière, Aude Brac;
    • Jonard‐Catteau, Sophie;
    • Touraine, Philippe;
    • Plu‐Bureau, Geneviève;
    • Dupont, Jean Michel;
    • Christin‐Maitre, Sophie;
    • Bienvenu, Thierry
    Publication type:
    Article
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    Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 1, p. 90, doi. 10.1111/cge.14515
    By:
    • Gerasimenko, Anna;
    • Mignot, Cyril;
    • Naggara, Olivier;
    • Coulet, Florence;
    • Ekram, Samar;
    • Heide, Solveig;
    • Sorato, Clarisse;
    • Mazowiecki, Maxime;
    • Perrin, Laurence;
    • Colas, Chrystelle;
    • Cusin, Veronica;
    • Caux, Frédéric;
    • Dardenne, Antoine;
    • El Chehadeh, Salima;
    • Verloes, Alain;
    • Maurey, Hélène;
    • Afenjar, Alexandra;
    • Petit, Florence;
    • Barete, Stéphane;
    • Boespflug‐Tanguy, Odile
    Publication type:
    Article
    8
    9

    A founder variant expands the phenotype of WNT7B‐related PDAC syndrome.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 1, p. 66, doi. 10.1111/cge.14512
    By:
    • AlAbdi, Lama;
    • Rahbeeni, Zuhair;
    • Maddirevula, Sateesh;
    • Helaby, Rana;
    • Abdulwahab, Firdous;
    • Khan, Arif O.;
    • Riley, Lisa G.;
    • Alhashem, Amal;
    • Chassaing, Nicolas;
    • Jamieson, Robyn V.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article
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    Issue Information.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 1, p. 1, doi. 10.1111/cge.14372
    Publication type:
    Article