Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 6

Results: 40
    1

    Love in the time of COVID‐19.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1299, doi. 10.1002/ajmg.a.61623
    By:
    • Muenke, Maximilian
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1298, doi. 10.1002/ajmg.a.61613
    Publication type:
    Article
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    Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1342, doi. 10.1002/ajmg.a.61586
    By:
    • Baban, Anwar;
    • Olivini, Nicole;
    • Cantarutti, Nicoletta;
    • Calì, Federica;
    • Vitello, Carmen;
    • Valentini, Diletta;
    • Adorisio, Rachele;
    • Calcagni, Giulio;
    • Alesi, Viola;
    • Di Mambro, Corrado;
    • Villani, Alberto;
    • Dallapiccola, Bruno;
    • Digilio, Maria Cristina;
    • Marino, Bruno;
    • Carotti, Adriano;
    • Drago, Fabrizio
    Publication type:
    Article
    7

    Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1407, doi. 10.1002/ajmg.a.61585
    By:
    • Abdel‐Salam, Ghada M. H.;
    • Sayed, Inas S. M.;
    • Afifi, Hanan H.;
    • Abdel‐Ghafar, Sherif F.;
    • Abouzaid, Maha R.;
    • Ismail, Samira I.;
    • Aglan, Mona S.;
    • Issa, Mahmoud Y.;
    • EL‐Bassyouni, Hala T.;
    • El‐Kamah, Ghada;
    • Effat, Laila K.;
    • Eid, Maha;
    • Zaki, Maha S.;
    • Temtamy, Samia A.;
    • Abdel‐Hamid, Mohamed S.
    Publication type:
    Article
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    Hutchinson‐Gilford Progeria syndrome: Report of the first Togolese case.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1316, doi. 10.1002/ajmg.a.61581
    By:
    • Guedenon, Koffi M.;
    • Doubaj, Yassamine;
    • Akolly, Djatougbe A. E.;
    • Barry Moussa, Weli;
    • Saka, Bayaki;
    • Adjenou, Komlavi;
    • Belo, Mofou;
    • Pio, Machihude;
    • Mihluedo‐Agbolan, Komlan A.;
    • Vonor, Kokou;
    • Amedome, Kokou M.;
    • Tchaou, Mazamaesso;
    • Atakouma, Yawo D.;
    • Gbadoe, Adama D.;
    • Dossou, Comlan F.;
    • Fiawoo, Mawouto;
    • Gnassingbe, Komla;
    • Pitche, Palokinam;
    • Agbèrè, Diparidè A.;
    • Gnamey, Didier K.
    Publication type:
    Article
    11

    Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1426, doi. 10.1002/ajmg.a.61580
    By:
    • Rech, Megan E.;
    • McCarthy, John M.;
    • Chen, Chun‐An;
    • Edmond, Jane C.;
    • Shah, Veeral S.;
    • Bosch, Daniëlle G. M.;
    • Berry, Gerard T.;
    • Williams, Linford;
    • Madan‐Khetarpal, Suneeta;
    • Niyazov, Dmitriy;
    • Shaw‐Smith, Charles;
    • Kovar, Erin M.;
    • Lupo, Philip J.;
    • Schaaf, Christian P.
    Publication type:
    Article
    12
    13

    KIT‐related piebaldism in a Chinese girl.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1321, doi. 10.1002/ajmg.a.61576
    By:
    • Zhu, Lei;
    • Yang, Chao;
    • Zhong, Wei;
    • Huang, Yu‐Qi;
    • Zhang, Qi;
    • Xu, Wen‐Cong;
    • Chen, Yong‐Feng
    Publication type:
    Article
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    Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1387, doi. 10.1002/ajmg.a.61571
    By:
    • Coban‐Akdemir, Zeynep H.;
    • Charng, Wu‐Lin;
    • Azamian, Mahshid;
    • Paine, Ingrid S.;
    • Punetha, Jaya;
    • Grochowski, Christopher M.;
    • Gambin, Tomasz;
    • Valdes, Santiago O.;
    • Cannon, Bryan;
    • Zapata, Gladys;
    • Hernandez, Patricia P.;
    • Jhangiani, Shalini;
    • Doddapaneni, Harsha;
    • Hu, Jianhong;
    • Boricha, Fatima;
    • Muzny, Donna M.;
    • Boerwinkle, Eric;
    • Yang, Yaping;
    • Gibbs, Richard A.;
    • Posey, Jennifer E.
    Publication type:
    Article
    19

    Human RAD50 deficiency: Confirmation of a distinctive phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1378, doi. 10.1002/ajmg.a.61570
    By:
    • Ragamin, Aviël;
    • Yigit, Gökhan;
    • Bousset, Kristine;
    • Beleggia, Filippo;
    • Verheijen, Frans W.;
    • Wit, Marie‐Claire Y.;
    • Strom, Tim M.;
    • Dörk, Thilo;
    • Wollnik, Bernd;
    • Mancini, Grazia M. S.
    Publication type:
    Article
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    Limitations of exome sequencing in detecting rare and undiagnosed diseases.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1400, doi. 10.1002/ajmg.a.61558
    By:
    • Burdick, Kendall J.;
    • Cogan, Joy D.;
    • Rives, Lynette C.;
    • Robertson, Amy K.;
    • Koziura, Mary E.;
    • Brokamp, Elly;
    • Duncan, Laura;
    • Hannig, Vickie;
    • Pfotenhauer, Jean;
    • Vanzo, Rena;
    • Paul, Michael S.;
    • Bican, Anna;
    • Morgan, Thomas;
    • Duis, Jessica;
    • Newman, John H.;
    • Hamid, Rizwan;
    • Phillips, John A.
    Publication type:
    Article
    28

    Mowat–Wilson syndrome in a Chinese population: A case series.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1336, doi. 10.1002/ajmg.a.61557
    By:
    • Ho, Stephanie;
    • Luk, Ho‐Ming;
    • Chung, Brian Hon‐Yin;
    • Fung, Jasmine Lee‐Fong;
    • Mak, Harriet Hang‐Yee;
    • Lo, Ivan F. M.
    Publication type:
    Article
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    KBG syndrome in two patients from Egypt.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1309, doi. 10.1002/ajmg.a.61552
    By:
    • Sayed, Inas S. M.;
    • Abdel‐Hamid, Mohamed S.;
    • Abdel‐Salam, Ghada M.H.
    Publication type:
    Article
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    Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1466, doi. 10.1002/ajmg.a.61549
    By:
    • Serey‐Gaut, Margaux;
    • Scala, Marcello;
    • Reversade, Bruno;
    • Ruaud, Lyse;
    • Cabrol, Christelle;
    • Musacchia, Francesco;
    • Torella, Annalaura;
    • Accogli, Andrea;
    • Escande‐Beillard, Nathalie;
    • Langlais, Jean;
    • Piatelli, Gianluca;
    • Consales, Alessandro;
    • Nigro, Vincenzo;
    • Capra, Valeria;
    • Van Maldergem, Lionel
    Publication type:
    Article
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    Publication schedule for 2020.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1294, doi. 10.1002/ajmg.a.61234
    Publication type:
    Article
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