Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 5

Results: 41
    1

    Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1339, doi. 10.1002/ajmg.a.63181
    By:
    • Martin‐Giacalone, Bailey A.;
    • Lin, Angela E.;
    • Rasmussen, Sonja A.;
    • Kirby, Russell S.;
    • Nestoridi, Eirini;
    • Liberman, Rebecca F.;
    • Agopian, A. J.;
    • Carey, John C.;
    • Cragan, Janet D.;
    • Forestieri, Nina;
    • Leedom, Vinita;
    • Boyce, Aubree;
    • Nembhard, Wendy N.;
    • Piccardi, Monika;
    • Sandidge, Theresa;
    • Shan, Xiaoyi;
    • Shumate, Charles J.;
    • Stallings, Erin B.;
    • Stevenson, Roger;
    • Lupo, Philip J.
    Publication type:
    Article
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    Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1282, doi. 10.1002/ajmg.a.63150
    By:
    • Harris, Sarah C.;
    • Chong, Karen;
    • Chitayat, David;
    • Gilmore, Kelly L.;
    • Jorge, Alexander A. L.;
    • Freire, Bruna L.;
    • Lerario, Antonio;
    • Shannon, Patrick;
    • Cope, Heidi;
    • Gallentine, William B.;
    • Le Guyader, Gwenal;
    • Bilan, Frederic;
    • Létard, Pascaline;
    • Davis, Erica E.;
    • Vora, Neeta L.
    Publication type:
    Article
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    Expanding the reproductive organ phenotype of CHD7‐spectrum disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1418, doi. 10.1002/ajmg.a.63148
    By:
    • Nomakuchi, Tomoki T.;
    • Danowitz, Melinda;
    • Stewart, Blythe;
    • Leonard, Jacqueline;
    • Izumi, Kosuke;
    • Krantz, Ian;
    • Kolon, Thomas F.;
    • Langdon, David;
    • Skraban, Cara;
    • Van Batavia, Jason;
    • Zackai, Elaine;
    • Jiao, Kai;
    • Linn, Rebecca;
    • Alexander, Caitlin;
    • Zaontz, Mark;
    • Vogiatzi, Maria G.;
    • Pyle, Louise C.
    Publication type:
    Article
    11

    TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1261, doi. 10.1002/ajmg.a.63142
    By:
    • Albokhari, Daniah;
    • Pritchard, Amanda Barone;
    • Beil, Adelyn;
    • Muss, Candace;
    • Bupp, Caleb;
    • Grange, Dorothy K.;
    • Delplancq, Geoffroy;
    • Heeley, Jennifer;
    • Zuteck, Melissa;
    • Morrow, Michelle M.;
    • Kuentz, Paul;
    • Palculict, Timothy Blake;
    • Hoover‐Fong, Julie E.
    Publication type:
    Article
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    Rock around DYRK1A: Ethnic diversity, clinical challenges.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1459, doi. 10.1002/ajmg.a.63140
    By:
    • Moroni, Alice;
    • Pezzani, Lidia;
    • Alfei, Enrico;
    • Scatigno, Agnese;
    • Cereda, Anna;
    • Marzaroli, Michela;
    • Guuva, Claudia;
    • Gabbiadini, Sara;
    • Pezzoli, Laura;
    • Marchetti, Daniela;
    • Spaccini, Luigina;
    • Iascone, Maria
    Publication type:
    Article
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    Tethered cord syndrome in KBG syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1222, doi. 10.1002/ajmg.a.63128
    By:
    • Hills, Sonia;
    • Pugacheva, Alisa;
    • Weltin, Patricia;
    • Maughan, Annette;
    • Morton, Sarah U.;
    • Feldman, Henry A.;
    • Klinge, Petra M.;
    • Agrawal, Pankaj B.
    Publication type:
    Article
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    A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1227, doi. 10.1002/ajmg.a.63130
    By:
    • Strong, Alanna;
    • Rao, Soumya;
    • von Hardenberg, Sandra;
    • Li, Dong;
    • Cox, Liza L.;
    • Lee, Paul C.;
    • Zhang, Li Q.;
    • Awotoye, Waheed;
    • Diamond, Tamir;
    • Gold, Jessica;
    • Gooch, Catherine;
    • Gowans, Lord Jephthah Joojo;
    • Hakonarson, Hakon;
    • Hing, Anne;
    • Loomes, Kathleen;
    • Martin, Nicole;
    • Marazita, Mary L.;
    • Mononen, Tarja;
    • Piccoli, David;
    • Pfundt, Rolph
    Publication type:
    Article
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    A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1355, doi. 10.1002/ajmg.a.63127
    By:
    • Kolvenbach, Caroline M.;
    • Zheng, Bixia;
    • Merz, Lea M.;
    • Mertens, Nils D.;
    • Mansour, Bshara;
    • Wang, Chunyan;
    • Seltzsam, Steve;
    • Schneider, Sophia;
    • Schierbaum, Luca;
    • Pantel, Dalia;
    • Chen, Jing;
    • van der Ven, Amelie T.;
    • Bello, Jibril O.;
    • Shril, Shirlee;
    • Hildebrandt, Friedhelm
    Publication type:
    Article
    30

    Nosology of genetic skeletal disorders: 2023 revision.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1164, doi. 10.1002/ajmg.a.63132
    By:
    • Unger, Sheila;
    • Ferreira, Carlos R.;
    • Mortier, Geert R.;
    • Ali, Houda;
    • Bertola, Débora R.;
    • Calder, Alistair;
    • Cohn, Daniel H.;
    • Cormier‐Daire, Valerie;
    • Girisha, Katta M.;
    • Hall, Christine;
    • Krakow, Deborah;
    • Makitie, Outi;
    • Mundlos, Stefan;
    • Nishimura, Gen;
    • Robertson, Stephen P.;
    • Savarirayan, Ravi;
    • Sillence, David;
    • Simon, Marleen;
    • Sutton, V. Reid;
    • Warman, Matthew L.
    Publication type:
    Article
    31

    An automatic facial landmarking for children with rare diseases.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1210, doi. 10.1002/ajmg.a.63126
    By:
    • Hennocq, Quentin;
    • Bongibault, Thomas;
    • Bizière, Matthieu;
    • Delassus, Ombline;
    • Douillet, Maxime;
    • Cormier‐Daire, Valérie;
    • Amiel, Jeanne;
    • Lyonnet, Stanislas;
    • Marlin, Sandrine;
    • Rio, Marlène;
    • Picard, Arnaud;
    • Khonsari, Roman Hossein;
    • Garcelon, Nicolas
    Publication type:
    Article
    32

    SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1447, doi. 10.1002/ajmg.a.63124
    By:
    • Edgerley, Katharine;
    • Bryson, Lisa;
    • Hanington, Lucy;
    • Irving, Rachel;
    • Joss, Shelagh;
    • Lampe, Anne;
    • Maystadt, Isabelle;
    • Osio, Deborah;
    • Richardson, Ruth;
    • Split, Miranda;
    • Sansbury, Francis H.;
    • Scurr, Ingrid;
    • Stewart, Helen;
    • McNeil, Alisdair;
    • Low, Karen
    Publication type:
    Article
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    Response to Letter to the Editor by Palffy and Ghaziuddin.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1470, doi. 10.1002/ajmg.a.63116
    By:
    • Santoro, Stephanie L.;
    • Baumer, Nicole T.;
    • Cornacchia, Michelle;
    • Franklin, Catherine;
    • Hart, Sarah J.;
    • Haugen, Kelsey;
    • Hojlo, Margaret A.;
    • Horick, Nora;
    • Kishnani, Priya S.;
    • Krell, Kavita;
    • McCormick, Andrew;
    • Milliken, Anna L.;
    • Oreskovic, Nicolas M.;
    • Pawlowski, Katherine G.;
    • Sargado, Sabrina;
    • Torres, Amy;
    • Valentini, Diletta;
    • Vellody, Kishore;
    • Skotko, Brian G.
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1143, doi. 10.1002/ajmg.a.62807
    Publication type:
    Article
    38

    Metabolomics as a Diagnostic Tool.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1141, doi. 10.1002/ajmg.a.62806
    Publication type:
    Article
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    Publication schedule for 2023.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1139, doi. 10.1002/ajmg.a.62804
    Publication type:
    Article
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