Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 4

Results: 52
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    Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1288, doi. 10.1002/ajmg.a.62100
    By:
    • Saad, Ahmed K.;
    • Maraf, Dana;
    • Mitani, Tadahiro;
    • Du, Haowei;
    • Rafat, Karima;
    • Fatih, Jawid M.;
    • Jhangiani, Shalini N.;
    • Coban-Akdemir, Zeynep;
    • Gibbs, Richard A.;
    • Pehlivan, Davut;
    • Hunter, Jill V.;
    • Posey, Jennifer E.;
    • Zaki, Maha S.;
    • Lupski, James R.
    Publication type:
    Article
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    Genetic skin disorders: The value of a multidisciplinary clinic.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1159, doi. 10.1002/ajmg.a.62095
    By:
    • Parker, James Clayton;
    • Rangu, Sneha;
    • Grand, Katheryn Lynn;
    • Bhoj, Elizabeth Joyce;
    • Castelo-Soccio, Leslie;
    • Sheppard, Sarah E.
    Publication type:
    Article
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    Germ cell mosaicism for AUTS2 exon 6 deletion.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1261, doi. 10.1002/ajmg.a.62091
    By:
    • Gieldon, Laura;
    • Jauch, Anna;
    • Obeid, Katharina;
    • Kaufmann, Lilian;
    • Hinderhofer, Katrin;
    • Haug, Ulrich;
    • Moog, Ute
    Publication type:
    Article
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    Auditory phenotype of Smith–Lemli–Opitz syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1131, doi. 10.1002/ajmg.a.62087
    By:
    • Zalewski, Christopher K.;
    • Sydlowski, Sarah A.;
    • King, Kelly A.;
    • Bianconi, Simona;
    • Do, An Dang;
    • Porter, Forbes D.;
    • Brewer, Carmen C.
    Publication type:
    Article
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    Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1113, doi. 10.1002/ajmg.a.62084
    By:
    • Maiko Hatano;
    • Hiroko Fukushima;
    • Tatsuyuki Ohto;
    • Yuichi Ueno;
    • Saki Saeki;
    • Takashi Enokizono;
    • Ryuta Tanaka;
    • Mai Tanaka;
    • Kazuo Imagawa;
    • Yu Kanai;
    • Mitsuhiro Kato;
    • Hiroshi Shiraku;
    • Hisato Suzuki;
    • Tomoko Uehara;
    • Toshiki Takenouchi;
    • Kenjiro Kosaki;
    • Hidetoshi Takada
    Publication type:
    Article
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    AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1228, doi. 10.1002/ajmg.a.62072
    By:
    • Edgerley, Katharine;
    • Barnicoat, Angela;
    • Offiah, Amaka C.;
    • Calder, Alistair D.;
    • Mankad, Kshitij;
    • Thomas, Nicholas Simon;
    • Bunyan, David J.;
    • Williams, Maggie;
    • Buxton, Chris;
    • Majumdar, Arniban;
    • Vijayakumar, Kayal;
    • Hilliard, Tom;
    • Turner, James;
    • Burren, Christine P.;
    • Monsell, Fergal;
    • Smithson, Sarah F.
    Publication type:
    Article
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    Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1216, doi. 10.1002/ajmg.a.62070
    By:
    • Gangfuß, Andrea;
    • Yigit, Gökhan;
    • Altmüller, Janine;
    • Nürnberg, Peter;
    • Czeschik, Johanna Christina;
    • Wollnik, Bernd;
    • Bögershausen, Nina;
    • Burfeind, Peter;
    • Wieczorek, Dagmar;
    • Kaiser, Frank;
    • Roos, Andreas;
    • Kölbel, Heike;
    • Schara-Schmidt, Ulrike;
    • Kuechler, Alma
    Publication type:
    Article
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    Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1204, doi. 10.1002/ajmg.a.62068
    By:
    • Tedesco, Maria Giovanna;
    • Lonardo, Fortunato;
    • Ceccarini, Caterina;
    • Cesarano, Carla;
    • Digilio, Maria Cristina;
    • Magliozzi, Monia;
    • Rogaia, Daniela;
    • Mencarelli, Amedea;
    • Leoni, Chiara;
    • Piscopo, Carmelo;
    • Imperatore, Valentina;
    • Falco, Maria Teresa;
    • Fontana, Paolo;
    • Nardone, Anna Maria;
    • Novelli, Antonio;
    • Troiani, Stefania;
    • Seri, Marco;
    • Prontera, Paolo
    Publication type:
    Article
    35

    Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1195, doi. 10.1002/ajmg.a.62067
    By:
    • Walczak-Sztulpa, Joanna;
    • Wawrocka, Anna;
    • Sta(nczyk, Małgorzata;
    • Pesz, Karolina;
    • Dudarewicz, Lech;
    • Chrul, Sławomir;
    • Bukowska-Olech, Ewelina;
    • Wieczorek-Cichecka, Nina;
    • Arts, Heleen H.;
    • Oud, Machteld M.;
    • Śmigiel, Robert;
    • Grenda, Ryszard;
    • Obersztyn, Ewa;
    • Chrzanowska, Krystyna H.;
    • Latos-Biele(nska, Anna
    Publication type:
    Article
    36

    SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1081, doi. 10.1002/ajmg.a.62065
    By:
    • Ayed, Ikhlas Ben;
    • Ouarda, Wael;
    • Frikha, Fakher;
    • Kammoun, Fatma;
    • Souissi, Amal;
    • Said, Mariem Ben;
    • Bouzid, Amal;
    • Elloumi, Ines;
    • Hamdani, Tarak M.;
    • Gharbi, Nourhene;
    • Baklouti, Nesrine;
    • Guirat, Manel;
    • Mejdoub, Fatma;
    • Kharrat, Najla;
    • Boujelbene, Imene;
    • Abdelhedi, Fatma;
    • Belguith, Neila;
    • Keskes, Leila;
    • Gibriel, Abdullah Ahmed;
    • Kamoun, Hassen
    Publication type:
    Article
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    Expansion of NEUROD2 phenotypes to include developmental delay without seizures.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1076, doi. 10.1002/ajmg.a.62064
    By:
    • Mis, Emily K.;
    • Sega, Annalisa G.;
    • Signer, Rebecca H.;
    • Cartwright, Tracy;
    • Weizhen Ji;
    • Martinez-Agosto, Julian A.;
    • Nelson, Stanley F.;
    • Palmer, Christina G. S.;
    • Hane Lee;
    • Mitzelfelt, Thomas;
    • Konstantino, Monica;
    • Jeffries, Lauren;
    • Khokha, Mustafa K.;
    • Marco, Elysa;
    • Martin, Martin G.;
    • Lakhani, Saquib A.
    Publication type:
    Article
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    Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1047, doi. 10.1002/ajmg.a.62059
    By:
    • Perrone, Eduardo;
    • Alvarez Perez, Ana Beatriz;
    • D'Almeida, Vânia;
    • de Mello, Claudia Berlim;
    • Avelino Jacobina, Marcela Amaral;
    • Loureiro, Rafael Maffei;
    • Burlin, Stênio;
    • Migliavacca, Michele;
    • Amaral Virmond, Luiza do;
    • Graziadio, Carla;
    • Pedroso, José Luiz;
    • Mendes, Elaine Lustosa;
    • Gomy, Israel;
    • de Macena Sobreira, Nara Lygia
    Publication type:
    Article
    43

    Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1317, doi. 10.1002/ajmg.a.62058
    By:
    • Dissanayake, Ruwangi;
    • Senanayake, Manouri P.;
    • Fernando, Jerard;
    • Robertson, Stephen P.;
    • Dissanayake, Vajira H. W.;
    • Sirisena, Nirmala D.
    Publication type:
    Article
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    Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1039, doi. 10.1002/ajmg.a.62057
    By:
    • Dingemans, Alexander J. M.;
    • Stremmelaar, Diante E.;
    • Vissers, Lisenka E. L. M.;
    • Jansen, Sandra;
    • Nabais Sá, Maria J.;
    • an Remortele, Angela v;
    • Jonis, Noraly;
    • Truijen, Kim;
    • van de Ven, Sam;
    • Ewals, Jeroen;
    • Verbruggen, Michel;
    • Koolen, David A.;
    • Brunner, Han G.;
    • Eichler, Evan E.;
    • Gecz, Jozef;
    • de Vries, Bert B. A.
    Publication type:
    Article
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    Ayme gripp syndrome in an Indian patient.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1312, doi. 10.1002/ajmg.a.62053
    By:
    • Chaudhry, Chakshu;
    • Kaur, Parminder;
    • Srivastava, Priyanka;
    • Kaur, Anupriya
    Publication type:
    Article
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