Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 4

Results: 42
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 618, doi. 10.1002/ajmg.a.61526
    Publication type:
    Article
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    Grandparental genotyping enhances exome variant interpretation.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 689, doi. 10.1002/ajmg.a.61511
    By:
    • Daum, Hagit;
    • Mor‐Shaked, Hagar;
    • Ta‐Shma, Asaf;
    • Shaag, Avraham;
    • Silverstein, Shira;
    • Shohat, Mordechai;
    • Elpeleg, Orly;
    • Meiner, Vardiella;
    • Harel, Tamar
    Publication type:
    Article
    6

    MECP2 duplication syndrome in a patient from Cameroon.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 619, doi. 10.1002/ajmg.a.61510
    By:
    • Tekendo‐Ngongang, Cedrik;
    • Dahoun, Sophie;
    • Nguefack, Séraphin;
    • Moix, Isabelle;
    • Gimelli, Stefania;
    • Zambo, Huguette;
    • Morris, Michael A.;
    • Sloan‐Béna, Frédérique;
    • Wonkam, Ambroise
    Publication type:
    Article
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    A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 780, doi. 10.1002/ajmg.a.61498
    By:
    • D'Gama, Alissa M.;
    • Brucker, William J.;
    • Zhang, Tian;
    • Gubbels, Cynthia S.;
    • Ferdinandusse, Sacha;
    • Shi, Jiahai;
    • Grant, Patricia Ellen;
    • VanNoy, Grace;
    • Genetti, Casie A.;
    • Juusola, Jane;
    • Yu, Timothy W.;
    • Kritzer, Amy;
    • Agrawal, Pankaj B.
    Publication type:
    Article
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    Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 746, doi. 10.1002/ajmg.a.61490
    By:
    • Sheppard, Sarah E.;
    • Smith, Anna;
    • Grand, Katheryn;
    • Pogoriler, Jennifer;
    • Rubin, Adam I.;
    • Schindewolf, Erica;
    • Fitzgerald, Mark P.;
    • Moldenhauer, Julie;
    • Laje, Pablo;
    • Peranteau, William;
    • Bhoj, Elizabeth;
    • McMahon, Patrick;
    • Castelo‐Soccio, Leslie
    Publication type:
    Article
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    Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 866, doi. 10.1002/ajmg.a.61485
    By:
    • Gross, Andrea M.;
    • Frone, Megan;
    • Gripp, Karen W.;
    • Gelb, Bruce D.;
    • Schoyer, Lisa;
    • Schill, Lisa;
    • Stronach, Beth;
    • Biesecker, Leslie G.;
    • Esposito, Dominic;
    • Hernandez, Edjay Ralph;
    • Legius, Eric;
    • Loh, Mignon L.;
    • Martin, Staci;
    • Morrison, Deborah K.;
    • Rauen, Katherine A.;
    • Wolters, Pamela L.;
    • Zand, Dina;
    • McCormick, Frank;
    • Savage, Sharon A.;
    • Stewart, Douglas R.
    Publication type:
    Article
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    Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 713, doi. 10.1002/ajmg.a.61483
    By:
    • Kanani, Farah;
    • Titheradge, Hannah;
    • Cooper, Nicola;
    • Elmslie, Frances;
    • Lees, Melissa M.;
    • Juusola, Jane;
    • Pisani, Laura;
    • McKenna, Carolyn;
    • Mignot, Cyril;
    • Valence, Stephanie;
    • Keren, Boris;
    • Lachlan, Katherine;
    • Balasubramanian, Meena
    Publication type:
    Article
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    Tatton‐Brown‐Rahman syndrome: Six individuals with novel features.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 673, doi. 10.1002/ajmg.a.61475
    By:
    • Balci, Tugce B.;
    • Strong, Alana;
    • Kalish, Jennifer M.;
    • Zackai, Elaine;
    • Maris, John M.;
    • Reilly, Anne;
    • Surrey, Lea F.;
    • Wertheim, Gerald B.;
    • Marcadier, Julien L.;
    • Graham, Gail E.;
    • Carter, Melissa T.
    Publication type:
    Article
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    Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 652, doi. 10.1002/ajmg.a.61466
    By:
    • Sewani, Maham;
    • Nugent, Kimberly;
    • Blackburn, Patrick R.;
    • Tarnowski, Jessica M.;
    • Hernandez‐Garcia, Andres;
    • Amiel, Jeanne;
    • Whalen, Sandra;
    • Keren, Boris;
    • Courtin, Thomas;
    • Rosenfeld, Jill A.;
    • Yang, Yaping;
    • Patterson, Marc C.;
    • Pichurin, Pavel;
    • McLean, Scott D.;
    • Scott, Daryl A.
    Publication type:
    Article
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    Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 697, doi. 10.1002/ajmg.a.61464
    By:
    • Machol, Keren;
    • Hadley, Trevor D.;
    • Schmidt, Jake;
    • Cuthbertson, David;
    • Traboulsi, Henri;
    • Silva, Rodrigo C.;
    • Citron, Chloe;
    • Khan, Sobiah;
    • Citron, Kate;
    • Carter, Erin;
    • Brookler, Kenneth;
    • Shapiro, Jay R.;
    • Steiner, Robert D.;
    • Byers, Peter H.;
    • Glorieux, Francis H.;
    • Durigova, Michaela;
    • Smith, Peter;
    • Bober, Michael B.;
    • Sutton, Vernon R.;
    • Lee, Brendan H.
    Publication type:
    Article
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    Publication schedule for 2020.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 614, doi. 10.1002/ajmg.a.61228
    Publication type:
    Article
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