Works matching IS 15524825 AND DT 2025 AND VI 197 AND IP 7

Results: 34
    1

    Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal FOXF1 Upstream Enhancer Deletion: A Case Report.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 7, p. 1, doi. 10.1002/ajmg.a.64056
    By:
    • Kawasaki, Hidenori;
    • Nakabayashi, Kazuhiko;
    • Ikeda, Masahiko;
    • Onda, Tetsuo;
    • Tomotaki, Seiichi;
    • Torishima, Masako;
    • Saito, Akiko;
    • Ohashi, Hirofumi;
    • Minamiguchi, Sachiko;
    • Hata, Kenichiro;
    • Hayakawa, Masahiro;
    • Kawai, Masahiko;
    • Cho, Kazutoshi;
    • Kosugi, Shinji;
    • Yamada, Takahiro
    Publication type:
    Article
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    Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 7, p. 1, doi. 10.1002/ajmg.a.64049
    By:
    • Peschiaroli, Sofia;
    • Viscogliosi, Germana;
    • Salerni, Annabella;
    • Crincoli, Emanuele;
    • Mattei, Roberta;
    • Verdolotti, Tommaso;
    • Loprete, Serafina Antonella;
    • Trevisan, Valentina;
    • Marrocco, Giovanni Antonio;
    • Cherubino, Alessia;
    • Perri, Lucrezia;
    • Onesimo, Roberta;
    • Zampino, Giuseppe;
    • Leoni, Chiara
    Publication type:
    Article
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    Situs Inversus in an Infant With Hypomandibular Faciocranial Syndrome: Clinical Overlap With the Agnathia‐Otocephaly Complex.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 7, p. 1, doi. 10.1002/ajmg.a.64045
    By:
    • Corona‐Rivera, Jorge Román;
    • Cortés‐Pastrana, Rocio Carolina;
    • Navia‐Espinoza, Natalia;
    • Claro‐Marín, Alexandra María;
    • Martínez‐Torres, Ana Fátima;
    • Peña‐Padilla, Christian;
    • Bobadilla‐Morales, Lucina;
    • Corona‐Rivera, Alfredo;
    • Ryu, Seung Woo;
    • Seo, Go Hun
    Publication type:
    Article
    11

    Unique DUP‐TRP/INV‐DUP Structure Detected by Long‐Read Sequencing.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 7, p. 1, doi. 10.1002/ajmg.a.64044
    By:
    • Shimomura, Rina;
    • Shimojima Yamamoto, Keiko;
    • Nakano, Mutsuki;
    • Tayama, Takahiro;
    • Mori, Tatsuo;
    • Nishi, Eriko;
    • Inoue, Ken;
    • Nagata, Satoru;
    • Okamoto, Nobuhiko;
    • Yamamoto, Toshiyuki
    Publication type:
    Article
    12

    Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 7, p. 1, doi. 10.1002/ajmg.a.64043
    By:
    • Lucain, Marie;
    • Vitobello, Antonio;
    • Sadikovic, Bekim;
    • Albuisson, Juliette;
    • Gaudillat, Léa;
    • Chevarin, Martin;
    • Maraval, Julien;
    • Thauvin‐Robinet, Christel;
    • Kerkhof, Jennifer;
    • Philippe, Christophe;
    • Nambot, Sophie;
    • Faivre, Laurence
    Publication type:
    Article
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    Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 7, p. 1, doi. 10.1002/ajmg.a.64039
    By:
    • Di Letto, Pasquale;
    • Budillon, Alberto;
    • Rahman, Sarah Iffat;
    • Del Vecchio Blanco, Francesca;
    • Zanobio, Mariateresa;
    • Scarpato, Margherita;
    • Russo, Margherita;
    • Onore, Maria Elena;
    • Piluso, Giulio;
    • Nigro, Vincenzo;
    • Banfi, Sandro;
    • Torella, Annalaura;
    • Morleo, Manuela;
    • Pierri, Nicola Brunetti;
    • Parenti, Giancarlo;
    • Spampanato, Carmine;
    • Pinelli, Michele;
    • Vitiello, Giuseppina;
    • Selicorni, Angelo;
    • Mariani, Milena
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 7, p. 1, doi. 10.1002/ajmg.a.63753
    Publication type:
    Article
    33

    23andMe Declares Bankruptcy.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 7, p. 1, doi. 10.1002/ajmg.a.63752
    By:
    • Nelson, Roxanne
    Publication type:
    Article
    34

    In Memory of Jürgen W. Spranger, MD (1931‐2025).

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 7, p. 1, doi. 10.1002/ajmg.a.63750
    By:
    • Superti‐Furga, Andrea;
    • Unger, Sheila;
    • Nishimura, Gen;
    • Hall, Christine;
    • Ferreira, Carlos R.
    Publication type:
    Article