Works matching IS 00099163 AND DT 2025 AND VI 107 AND IP 5

Results: 16
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    Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 5, p. 579, doi. 10.1111/cge.14705
    By:
    • Beyens, Aude;
    • Van De Voorde, Stefanie;
    • Guerreiro Santano Ramos Da Silva, Marta;
    • De Meulemeester, Sofie;
    • Devriendt, Koen;
    • Goeteyn, Marleen;
    • Janssens, Sandra;
    • Kooy, R. Frank;
    • Rosseel, Toon;
    • Symoens, Sofie;
    • Hes, Frederik Jan;
    • Keymolen, Kathelijn;
    • Dimitrov, Boyan;
    • Callewaert, Bert
    Publication type:
    Article
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    The Phenotypic and Genotypic Spectrum of BRPF1‐Related Disorder: 29 New Patients and Literature Review.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 5, p. 527, doi. 10.1111/cge.14688
    By:
    • Colson, Cindy;
    • Tessarech, Marine;
    • Boucher‐Brischoux, Elise;
    • Boute‐Benejean, Odile;
    • Vincent‐Delorme, Catherine;
    • Vanlerberghe, Clémence;
    • Boussion, Simon;
    • Cunff, Justine Le;
    • Duban‐Bedu, Bénédicte;
    • Faivre, Laurence;
    • Thauvin, Christel;
    • Philippe, Christophe;
    • Bruel, Ange‐Line;
    • Tran Mau‐Them, Frédéric;
    • Houdayer, Clara;
    • Lesca, Gaetan;
    • Putoux, Audrey;
    • Lévy, Jonathan;
    • Patat, Olivier;
    • Rio, Marlène
    Publication type:
    Article
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    Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 5, p. 570, doi. 10.1111/cge.14684
    By:
    • Innella, Giovanni;
    • Coccia, Emanuele;
    • Cristalli, Carlotta Pia;
    • Zacchi, Eliana;
    • Calabrese, Sara;
    • Bacchi, Isabelle;
    • Palombo, Flavia;
    • Taormina, Sara;
    • Evangelisti, Cecilia;
    • Lanzoni, Giulia;
    • Carelli, Valerio;
    • Diquigiovanni, Chiara;
    • Ferrari, Simona;
    • Panza, Emanuele;
    • Rossi, Cesare;
    • Vaisfeld, Alessandro;
    • Bonora, Elena;
    • Turchetti, Daniela
    Publication type:
    Article
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    Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 5, p. 495, doi. 10.1111/cge.14682
    By:
    • Hennocq, Quentin;
    • Lienhard, Olivier;
    • Rao, Dipesh;
    • Amiel, Jeanne;
    • Benichou, Ludovic;
    • Bongibault, Thomas;
    • Hidalgo, Ana‐Julia Bravo;
    • Cormier‐Daire, Valérie;
    • Lyonnet, Stanislas;
    • Picard, Arnaud;
    • Rio, Marlène;
    • Zaiter, Ahmed;
    • Garcelon, Nicolas;
    • Tkemaladze, Tinatin;
    • Khonsari, Roman H.
    Publication type:
    Article
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    Issue Information.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 5, p. 483, doi. 10.1111/cge.14555
    Publication type:
    Article
    16

    A Variable Clinical Presentation of Hemoglobin City of Hope.

    Published in:
    Clinical Genetics, 2025, v. 107, n. 5, p. 552, doi. 10.1111/cge.14675
    By:
    • Brik Simon, Dafna;
    • Filon, Dvora;
    • Meiner, Vardiella;
    • Krasnov, Tanya;
    • Noy‐Lotan, Sharon;
    • Dgany, Orly;
    • Gilad, Oded;
    • Goldberg, Tracie;
    • Izraeli, Shai;
    • Yacobovich, Joanne;
    • Tamary, Hannah;
    • Steinberg‐Shemer, Orna
    Publication type:
    Article