Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 7

Results: 41
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    Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2‐associated syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1984, doi. 10.1002/ajmg.a.63225
    By:
    • Kurosaka, Hiroshi;
    • Yamamoto, Sayuri;
    • Hirasawa, Kyoko;
    • Yanagishita, Tomoe;
    • Fujioka, Kaoru;
    • Yagasaki, Hideaki;
    • Nagata, Miho;
    • Ishihara, Yasuki;
    • Yonei, Ayumi;
    • Asano, Yoshihiro;
    • Nagata, Namiki;
    • Tsujimoto, Takayuki;
    • Inubushi, Toshihiro;
    • Yamamoto, Toshiyuki;
    • Sakai, Norio;
    • Yamashiro, Takashi
    Publication type:
    Article
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    Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1900, doi. 10.1002/ajmg.a.63226
    By:
    • Wojcik, Monica H.;
    • Srivastava, Siddharth;
    • Agrawal, Pankaj B.;
    • Balci, Tugce B.;
    • Callewaert, Bert;
    • Calvo, Pier Luigi;
    • Carli, Diana;
    • Caudle, Michelle;
    • Colaiacovo, Samantha;
    • Cross, Laura;
    • Demetriou, Kalliope;
    • Drazba, Katy;
    • Dutra‐Clarke, Marina;
    • Edwards, Matthew;
    • Genetti, Casie A.;
    • Grange, Dorothy K.;
    • Hickey, Scott E.;
    • Isidor, Bertrand;
    • Küry, Sébastien;
    • Lachman, Herbert M.
    Publication type:
    Article
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    Novel NALCN variant linked to temporal lobe epilepsy.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1942, doi. 10.1002/ajmg.a.63209
    By:
    • Nguyen, Emmanuelle;
    • Tétreault, Martine;
    • Toffa, Dènahin Hinnoutondji;
    • Cossette, Patrick;
    • Samarut, Éric;
    • Nguyen, Dang Khoa
    Publication type:
    Article
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    Novel insights on GTPBP3‐associated hypertrophic cardiomyopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1804, doi. 10.1002/ajmg.a.63205
    By:
    • Angelova, Petya;
    • Velchev, Vasil;
    • Stoyanov, Nikolay;
    • Atemin, Slavena;
    • Todorov, Tihomir;
    • Tourtourikov, Ivan;
    • Mitev, Vanyo;
    • Todorova, Albena
    Publication type:
    Article
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    Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1935, doi. 10.1002/ajmg.a.63203
    By:
    • Thomas‐Wilson, Amanda;
    • Schacht, John P.;
    • Chitayat, David;
    • Blaser, Susan;
    • Santos, Francis Jeshira Reynoso;
    • Glaser, Kimberly;
    • Caffo, Alesky;
    • Wentzensen, Ingrid M.;
    • Henderson, Lindsay B.;
    • Zhang, Futao;
    • Zhu, Ying;
    • Di Corleto, Ellen;
    • da Silva Costa, Fabricio;
    • Vink, Rebecca;
    • Alkhunaizi, Ebba;
    • Russell, Laura;
    • Buckley, Michael F.;
    • Roscioli, Tony;
    • Pereira, Elaine Maria;
    • Ganapathi, Mythily
    Publication type:
    Article
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    Cardiometabolic risk in young adults with Down syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1758, doi. 10.1002/ajmg.a.63197
    By:
    • Manfredo, Jacquelyn;
    • Capone, George;
    • Yanek, Lisa;
    • McCarter, Robert;
    • Zemel, Babette;
    • Kelly, Andrea;
    • Magge, Sheela N.
    Publication type:
    Article
    31

    Long‐term follow‐up of a patient with neonatal form of Gaucher disease.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1917, doi. 10.1002/ajmg.a.63196
    By:
    • Gragnaniello, Vincenza;
    • Cazzorla, Chiara;
    • Gueraldi, Daniela;
    • Loro, Christian;
    • Massa, Pamela;
    • Puma, Andrea;
    • Cananzi, Mara;
    • Salviati, Leonardo;
    • Burlina, Alessandro P.;
    • Burlina, Alberto B.
    Publication type:
    Article
    32

    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1691, doi. 10.1002/ajmg.a.62817
    Publication type:
    Article
    33

    Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1722, doi. 10.1002/ajmg.a.63194
    By:
    • Gazdagh, Gabriella;
    • Hunt, David;
    • Gonzalez, Anna Maria Cueto;
    • Rodriguez, Monserrat Pons;
    • Chaudhry, Ayeshah;
    • Madruga, Marcos;
    • Vansenne, Fleur;
    • Shears, Deborah;
    • Curie, Aurore;
    • Stattin, Eva‐Lena;
    • Anderlid, Britt‐Marie;
    • Trajkova, Slavica;
    • Angelovska, Elena Sukarova;
    • McWilliam, Catherine;
    • Wyatt, Philip R.;
    • O'Driscoll, Mary;
    • Atton, Giles;
    • Bergman, Anke K.;
    • Zacher, Pia;
    • Mewasingh, Leena D.
    Publication type:
    Article
    34

    H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1911, doi. 10.1002/ajmg.a.63193
    By:
    • Borja, Nicholas;
    • Borjas‐Mendoza, Paulo;
    • Bivona, Stephanie;
    • Peart, LéShon;
    • Gonzalez, Joanna;
    • Johnson, Brittney Keira;
    • Guo, Shengru;
    • Yusupov, Roman;
    • Acosta, Maria T.;
    • Adam, Margaret;
    • Adams, David R.;
    • Agrawal, Pankaj B.;
    • Alejandro, Mercedes E.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Azamian, Mahshid S.;
    • Bacino, Carlos A.;
    • Bademci, Guney
    Publication type:
    Article
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    Quantitative measures of motor development in Angelman syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1711, doi. 10.1002/ajmg.a.63192
    By:
    • Duis, Jessica;
    • Skinner, Austin;
    • Carson, Robert;
    • Gouelle, Arnaud;
    • Annoussamy, Melanie;
    • Silverman, Jill L.;
    • Apkon, Susan;
    • Servais, Laurent;
    • Carollo, James
    Publication type:
    Article
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    Development of informant‐report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1741, doi. 10.1002/ajmg.a.63195
    By:
    • Frazier, Thomas W.;
    • Busch, Robyn M.;
    • Klaas, Patricia;
    • Lachlan, Katherine;
    • Jeste, Shafali;
    • Kolevzon, Alexander;
    • Loth, Eva;
    • Harris, Jacqueline;
    • Speer, Leslie;
    • Pepper, Tom;
    • Anthony, Kristin;
    • Graglia, J. Michael;
    • Delagrammatikas, Christal;
    • Bedrosian‐Sermone, Sandra;
    • Beekhuyzen, Jenine;
    • Smith‐Hicks, Constance;
    • Sahin, Mustafa;
    • Eng, Charis;
    • Hardan, Antonia Y.;
    • Uljarević, Mirko
    Publication type:
    Article
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    Publication schedule for 2023.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1687, doi. 10.1002/ajmg.a.62814
    Publication type:
    Article
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