Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 3

Results: 41
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 723, doi. 10.1002/ajmg.a.62682
    Publication type:
    Article
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    Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 1000, doi. 10.1002/ajmg.a.62600
    By:
    • Aukema, Sietse M.;
    • de Geus, Christa M.;
    • Robben, Simon G. F.;
    • van Kaam, Kim J. A. F.;
    • Staal, Heleen M.;
    • Witlox, Adhiambo M.;
    • de la Haye, Nicole A. J.;
    • Klaassens, Merel;
    • Coumans, Audrey;
    • Stegmann, Alexander P. A.;
    • Paley, Dror;
    • Stumpel, Constance T. R. M.
    Publication type:
    Article
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    8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single‐center experience and literature revision.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 883, doi. 10.1002/ajmg.a.62598
    By:
    • Cicenia, Marianna;
    • Alesi, Viola;
    • Orlando, Valeria;
    • Magliozzi, Monia;
    • Di Tommaso, Silvia;
    • Iodice, Francesca G.;
    • Pompei, Emanuela;
    • Toscano, Alessandra;
    • Digilio, Maria C.;
    • Drago, Fabrizio;
    • Novelli, Antonio;
    • Baban, Anwar
    Publication type:
    Article
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    Further delineation of phenotypic spectrum of SCN2A‐related disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 867, doi. 10.1002/ajmg.a.62595
    By:
    • Richardson, Ruth;
    • Baralle, Diana;
    • Bennett, Christopher;
    • Briggs, Tracy;
    • Bijlsma, Emilia K.;
    • Clayton‐Smith, Jill;
    • Constantinou, Panayiotis;
    • Foulds, Nicola;
    • Jarvis, Joanna;
    • Jewell, Rosalyn;
    • Johnson, Diana S.;
    • McEntagart, Meriel;
    • Parker, Michael J.;
    • Radley, Jessica A.;
    • Robertson, Lisa;
    • Ruivenkamp, Claudia;
    • Rutten, Julie W.;
    • Tellez, James;
    • Turnpenny, Peter D.;
    • Wilson, Valerie
    Publication type:
    Article
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    Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 1005, doi. 10.1002/ajmg.a.62591
    By:
    • Oliver, Chris;
    • Groves, Laura;
    • Hansen, Blake D.;
    • Salehi, Masoud;
    • Kheradmand, Shaydah;
    • Carrico, Cheri S.;
    • Caudill, Patti;
    • Mattingly, Mark;
    • Dorsett, Dale;
    • Chea, Stephenson;
    • Singh, Vijay Pratap;
    • Krantz, Ian D.;
    • Huisman, Sylvia;
    • Deardorff, Matthew A.;
    • Kline, Antonie D.
    Publication type:
    Article
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    Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 959, doi. 10.1002/ajmg.a.62584
    By:
    • Balachandar, Srimmitha;
    • Graves, Tamara J.;
    • Shimonty, Anika;
    • Kerr, Katie;
    • Kilner, Jill;
    • Xiao, Sihao;
    • Slade, Richard;
    • Sroya, Manveer;
    • Alikian, Mary;
    • Curetean, Emanuel;
    • Thomas, Ellen;
    • McConnell, Vivienne P. M.;
    • McKee, Shane;
    • Boardman‐Pretty, Freya;
    • Devereau, Andrew;
    • Fowler, Tom A.;
    • Caulfield, Mark J.;
    • Alton, Eric W.;
    • Ferguson, Teena;
    • Redhead, Julian
    Publication type:
    Article
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    Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 788, doi. 10.1002/ajmg.a.62579
    By:
    • Chaudhary, Ajay Kumar;
    • Gholse, Aishwarya;
    • Nagarajaram, Hampapathalu Adimurthy;
    • Dalal, Ashwin Bhikaji;
    • Gupta, Neerja;
    • Dutta, Atanu Kumar;
    • Danda, Sumita;
    • Gupta, Rekha;
    • Sankar, Hariharan V.;
    • Bhavani, Gandham SriLakshmi;
    • Girisha, Katta M.;
    • Phadke, Shubha Rao;
    • Ranganath, Prajnya;
    • Bashyam, Murali Dharan
    Publication type:
    Article
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    22q11.2 duplications: Expanding the clinical presentation.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 779, doi. 10.1002/ajmg.a.62577
    By:
    • Bartik, Lauren E.;
    • Hughes, Susan S.;
    • Tracy, Meghan;
    • Feldt, M. Max;
    • Zhang, Lei;
    • Arganbright, Jill;
    • Kaye, Alison
    Publication type:
    Article
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    Dominant and recessive SLC12A2‐syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 996, doi. 10.1002/ajmg.a.62573
    By:
    • McNeill, Alisdair;
    • Aurora, Paul;
    • Rajput, Kaukab;
    • Nash, Robert;
    • Stals, Karen;
    • Robinson, Hannah;
    • Wakeling, Emma
    Publication type:
    Article
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    Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 760, doi. 10.1002/ajmg.a.62572
    By:
    • Montenegro, Yorran Hardman Araújo;
    • de Souza, Carolina Fischinger Moura;
    • Kubaski, Francyne;
    • Trapp, Franciele Barbosa;
    • Burin, Maira Graeff;
    • Michelin‐Tirelli, Kristiane;
    • Leistner‐Segal, Sandra;
    • Facchin, Ana Carolina Brusius;
    • Medeiros, Fernanda S.;
    • Giugliani, Luciana;
    • Ribeiro, Erlane Marques;
    • Lourenço, Charles Marques;
    • Cardoso‐dos‐Santos, Augusto César;
    • Ribeiro, Márcia Gonçalves;
    • Kim, Chong Ae;
    • Castro, Matheus Augusto Araújo;
    • Embiruçu, Emília Katiane;
    • Steiner, Carlos Eduardo;
    • Moreira, Maria Lucia Castro;
    • Montano, Hector Quintero
    Publication type:
    Article
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    Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 751, doi. 10.1002/ajmg.a.62566
    By:
    • Jacob, Prince;
    • Bhavani, Gandham Sri Lakshmi;
    • Shah, Hitesh;
    • Galada, Chelna;
    • Nampoothiri, Sheela;
    • Kamath, Nutan;
    • Phadke, Shubha R.;
    • Muranjan, Mamta;
    • Datar, Chaitanya A.;
    • Shukla, Anju;
    • Girisha, Katta M.
    Publication type:
    Article
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    Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 735, doi. 10.1002/ajmg.a.62565
    By:
    • Herman, Isabella;
    • Jolly, Angad;
    • Du, Haowei;
    • Dawood, Moez;
    • Abdel‐Salam, Ghada M. H.;
    • Marafi, Dana;
    • Mitani, Tadahiro;
    • Calame, Daniel G.;
    • Coban‐Akdemir, Zeynep;
    • Fatih, Jawid M.;
    • Hegazy, Ibrahim;
    • Jhangiani, Shalini N.;
    • Gibbs, Richard A.;
    • Pehlivan, Davut;
    • Posey, Jennifer E.;
    • Lupski, James R.
    Publication type:
    Article
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    Publication schedule for 2022.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 719, doi. 10.1002/ajmg.a.62278
    Publication type:
    Article
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