Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 5

Results: 45
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    Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1464, doi. 10.1002/ajmg.a.62663
    By:
    • Tønne, Elin;
    • Due‐Tønnessen, Bernt Johan;
    • Vigeland, Magnus Dehli;
    • Amundsen, Silja Svanstrøm;
    • Ribarska, Teodora;
    • Åsten, Pamela Marika;
    • Sheng, Ying;
    • Helseth, Eirik;
    • Gilfillan, Gregor Duncan;
    • Mero, Inger‐Lise;
    • Heimdal, Ketil Riddervold
    Publication type:
    Article
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    SHORT syndrome in an adult Brazilian patient.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1635, doi. 10.1002/ajmg.a.62660
    By:
    • Gonçalves, Ana Caroline G.;
    • Moretti, Patricia N.;
    • Cordoba, Mara S.;
    • Oliveira, Renata S.;
    • Lopes, Fernanda S. C.;
    • Oliveira, Silviene F.;
    • Pic‐Taylor, Aline;
    • Castro, Luiz Claudio;
    • Mazzeu, Juliana F.
    Publication type:
    Article
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    Werner syndrome in a Lebanese family.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1630, doi. 10.1002/ajmg.a.62654
    By:
    • Jaafar, Batoul;
    • Nasrallah, Mona;
    • Sievers, Bianca;
    • Oshima, Junko;
    • Lessel, Davor
    Publication type:
    Article
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    Neuropsychiatric features of Prader–Willi syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1457, doi. 10.1002/ajmg.a.62662
    By:
    • Shelkowitz, Emily;
    • Gantz, Marie G.;
    • Ridenour, Ty A.;
    • Scheimann, Ann O.;
    • Strong, Theresa;
    • Bohonowych, Jessica;
    • Duis, Jessica
    Publication type:
    Article
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    Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1448, doi. 10.1002/ajmg.a.62661
    By:
    • Murad, Andrea M.;
    • Hill, Hannah L.;
    • Wang, Yu;
    • Ghannam, Michael;
    • Yang, Min‐Lee;
    • Pugh, Norma L.;
    • Asch, Federico M.;
    • Hornsby, Whitney;
    • Driscoll, Anisa;
    • McNamara, Jennifer;
    • Willer, Cristen J.;
    • Regalado, Ellen S.;
    • Milewicz, Dianna M.;
    • Eagle, Kim A.;
    • Ganesh, Santhi K.
    Publication type:
    Article
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    Near complete deletion of KMT2D in a college student.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1550, doi. 10.1002/ajmg.a.62652
    By:
    • Gooch, Catherine;
    • Souder, Jaclyn Paige;
    • Tedder, Matthew L.;
    • Kerkhof, Jennifer;
    • Lee, Jennifer A.;
    • Louie, Raymond J.;
    • Sadikovic, Bekim;
    • Fletcher, Robin S.;
    • Robin, Nathaniel H.
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1353, doi. 10.1002/ajmg.a.62293
    Publication type:
    Article
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    Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1355, doi. 10.1002/ajmg.a.62644
    By:
    • Wang, Chunyan;
    • Seltzsam, Steve;
    • Zheng, Bixia;
    • Wu, Chen‐Han Wilfred;
    • Nicolas‐Frank, Camille;
    • Yousef, Kirollos;
    • Au, Kit Sing;
    • Mann, Nina;
    • Pantel, Dalia;
    • Schneider, Sophia;
    • Schierbaum, Luca;
    • Kitzler, Thomas M.;
    • Connaughton, Dervla M.;
    • Mao, Youying;
    • Dai, Rufeng;
    • Nakayama, Makiko;
    • Kari, Jameela A.;
    • El Desoky, Sherif;
    • Shalaby, Mohammed;
    • Eid, Loai A.
    Publication type:
    Article
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    Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1600, doi. 10.1002/ajmg.a.62642
    By:
    • Tharreau, Mylène;
    • Garde, Aurore;
    • Marlin, Sandrine;
    • Morel, Godelieve;
    • Ernest, Sylvain;
    • Nambot, Sophie;
    • Duffourd, Yannis;
    • Ternoy, Ninon;
    • Duvillard, Christian;
    • Banka, Siddharth;
    • Philippe, Christophe;
    • Thauvin‐Robinet, Christel;
    • Mau‐Them, Frederic Tran;
    • Faivre, Laurence
    Publication type:
    Article
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    Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1384, doi. 10.1002/ajmg.a.62645
    By:
    • Cappuccio, Gerarda;
    • Brunetti‐Pierri, Nicola;
    • Clift, Paul;
    • Learn, Christopher;
    • Dykes, John C.;
    • Mercer, Catherine L.;
    • Callewaert, Bert;
    • Meerschaut, Ilse;
    • Spinelli, Alessandro Mauro;
    • Bruno, Irene;
    • Gillespie, Matthew J.;
    • Dorfman, Aaron T.;
    • Grimberg, Adda;
    • Lindsay, Mark E.;
    • Lin, Angela E.
    Publication type:
    Article
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    Publication schedule for 2022.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1349, doi. 10.1002/ajmg.a.62290
    Publication type:
    Article
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