Works matching IS 1552-4825 AND VI 191 AND IP 2 AND DT 2023

Results: 45
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    Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 605, doi. 10.1002/ajmg.a.63054
    By:
    • Rimoldi, Martina;
    • Rinaldi, Berardo;
    • Villa, Roberta;
    • Cerasani, Jacopo;
    • Beltrami, Benedetta;
    • Iascone, Maria;
    • Silipigni, Rosamaria;
    • Boito, Simona;
    • Gangi, Silvana;
    • Colombo, Lorenzo;
    • Porro, Matteo;
    • Cesaretti, Claudia;
    • Bedeschi, Maria Francesca
    Publication type:
    Article
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    Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 510, doi. 10.1002/ajmg.a.63053
    By:
    • Mainali, Apurba;
    • Athey, Taryn;
    • Bahl, Shalini;
    • Hung, Clara;
    • Caluseriu, Oana;
    • Chan, Alicia;
    • Eaton, Alison;
    • Ghai, Shailly Jain;
    • Kannu, Peter;
    • MacPherson, Melissa;
    • Niederhoffer, Karen Y.;
    • Siriwardena, Komudi;
    • Mercimek‐Andrews, Saadet
    Publication type:
    Article
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    ZDHHC9 X‐linked intellectual disability: Clinical and molecular characterization.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 599, doi. 10.1002/ajmg.a.63052
    By:
    • Ramos, Anna Karolina Silva;
    • Caldas‐Rosa, Erica Carine Campos;
    • Ferreira, Bárbara Merfort;
    • Versiani, Beatriz Ribeiro;
    • Moretti, Patrícia Natalia;
    • de Oliveira, Silviene Fabiana;
    • Pic‐Taylor, Aline;
    • Mazzeu, Juliana F.
    Publication type:
    Article
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    SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 592, doi. 10.1002/ajmg.a.63051
    By:
    • de Oliveira, Flávia Marcorin;
    • Barros, Beatriz Amstalden;
    • dos Santos, Ana Paula;
    • Campos, Nilma Lúcia Viguetti;
    • Mazzola, Taís Nitsch;
    • Filho, Paulo Latuf;
    • Andrade, Liliana Aparecida Lucci De Angelo;
    • Guaragna, Mara Sanches;
    • de Mello, Maricilda Palandi;
    • Guerra‐Junior, Gil;
    • Vieira, Társis Antonio Paiva;
    • Maciel‐Guerra, Andréa Trevas
    Publication type:
    Article
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    A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 490, doi. 10.1002/ajmg.a.63049
    By:
    • Vocke, Cathy D.;
    • Fleming, Leah R.;
    • Piskorski, Anna M.;
    • Amin, Ali;
    • Phornphutkul, Chanika;
    • de la Monte, Suzanne;
    • Vilboux, Thierry;
    • Duncan, Folami;
    • Pellegrino, Joan;
    • Braddock, Bonnie;
    • Middelton, Lindsay A.;
    • Schmidt, Laura S.;
    • Merino, Maria J.;
    • Cowen, Edward W.;
    • Introne, Wendy J.;
    • Linehan, W. Marston;
    • Smith, Ann C. M.
    Publication type:
    Article
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    Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 479, doi. 10.1002/ajmg.a.63047
    By:
    • Lauffer, Peter;
    • Pals, Gerard;
    • Zwinderman, Aeilko H.;
    • Postema, Floor A. M.;
    • Baars, Marieke J. H.;
    • Dulfer, Eelco;
    • Hilhorst‐Hofstee, Yvonne;
    • Houweling, Arjan C.;
    • Kempers, Marlies;
    • Krapels, Ingrid P. C.;
    • van de Laar, Ingrid M. B. H.;
    • Loeys, Bart;
    • Spaans, Alexander M. J.;
    • Warnink‐Kavelaars, Jessica;
    • de Waard, Vivian;
    • Wit, Jan M.;
    • Menke, Leonie A.
    Publication type:
    Article
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    Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 469, doi. 10.1002/ajmg.a.63044
    By:
    • Roessler, Franziska;
    • Beck, Anita E.;
    • Susie, Ball;
    • Tobias, Bartolomaeus;
    • Begtrup, Amber;
    • Biskup, Saskia;
    • Caluseriu, Oana;
    • Delanty, Norman;
    • Fröhlich, Christine;
    • Greally, Marie T.;
    • Karnstedt, Maike;
    • Klöckner, Chiara;
    • Kurtzberg, Joanne;
    • Schubert, Susanna;
    • Schulze, Martin;
    • Weidenbach, Michael;
    • Westphal, Dominik S.;
    • White, Maire;
    • Wolf, Cordula M.;
    • Zyskind, Jacob
    Publication type:
    Article
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    1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 445, doi. 10.1002/ajmg.a.63041
    By:
    • Jacquin, Clémence;
    • Landais, Emilie;
    • Poirsier, Céline;
    • Afenjar, Alexandra;
    • Akhavi, Ahmad;
    • Bednarek, Nathalie;
    • Bénech, Caroline;
    • Bonnard, Adeline;
    • Bosquet, Damien;
    • Burglen, Lydie;
    • Callier, Patrick;
    • Chantot‐Bastaraud, Sandra;
    • Coubes, Christine;
    • Coutton, Charles;
    • Delobel, Bruno;
    • Descharmes, Margaux;
    • Dupont, Jean‐Michel;
    • Gatinois, Vincent;
    • Gruchy, Nicolas;
    • Guterman, Sarah
    Publication type:
    Article
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    Anxiety in Wiedemann–Steiner syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 437, doi. 10.1002/ajmg.a.63040
    By:
    • Ng, Rowena;
    • Bjornsson, Hans Tomas;
    • Fahrner, Jill A.;
    • Harris, Jacqueline
    Publication type:
    Article
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    The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 424, doi. 10.1002/ajmg.a.63039
    By:
    • Ajmone, Paola Francesca;
    • Giani, Ludovica;
    • Allegri, Beatrice;
    • Michelini, Giovanni;
    • Dall'Ara, Francesca;
    • Rigamonti, Claudia;
    • Monti, Federico;
    • Vizziello, Paola Giovanna;
    • Selicorni, Angelo;
    • Milani, Donatella;
    • Scaini, Simona;
    • Costantino, Antonella
    Publication type:
    Article
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    SCAF4‐related syndromic intellectual disability.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 570, doi. 10.1002/ajmg.a.63032
    By:
    • Carvalho, Laura Machado Lara;
    • Pinto, Carla Franchi;
    • de Oliveira Scliar, Marília;
    • Otto, Paulo A.;
    • Krepischi, Ana Cristina Victorino;
    • Rosenberg, Carla
    Publication type:
    Article
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    Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 357, doi. 10.1002/ajmg.a.63027
    By:
    • Baker, Emma K.;
    • Arpone, Marta;
    • Bui, Minh;
    • Kraan, Claudine M.;
    • Ling, Ling;
    • Francis, David;
    • Hunter, Mathew F.;
    • Rogers, Carolyn;
    • Field, Michael J.;
    • Santa María, Lorena;
    • Faundes, Víctor;
    • Curotto, Bianca;
    • Morales, Paulina;
    • Trigo, Cesar;
    • Salas, Isabel;
    • Alliende, Angelica M.;
    • Amor, David J.;
    • Godler, David E.
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 321, doi. 10.1002/ajmg.a.62792
    Publication type:
    Article
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    Publication schedule for 2023.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 317, doi. 10.1002/ajmg.a.62789
    Publication type:
    Article
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