Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 9

Results: 37
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2001, doi. 10.1002/ajmg.a.61820
    Publication type:
    Article
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    Corrigendum.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2195, doi. 10.1002/ajmg.a.61774
    Publication type:
    Article
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    Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome?

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2010, doi. 10.1002/ajmg.a.61758
    By:
    • Koh, Ai Ling;
    • Bonnard, Carine;
    • Lim, Jiin Ying;
    • Liew, Woei Kang;
    • Thoon, Koh Cheng;
    • Thomas, Terrence;
    • Ali, Nur Ain Binte;
    • Ng, Alvin Yu Jin;
    • Tohari, Sumanty;
    • Phua, Kong Boo;
    • Venkatesh, Byrappa;
    • Reversade, Bruno;
    • Jamuar, Saumya Shekhar
    Publication type:
    Article
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    50 years of Robinow syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2005, doi. 10.1002/ajmg.a.61756
    By:
    • Mazzeu, Juliana F.;
    • Brunner, Han G.
    Publication type:
    Article
    11

    Schimke XLID syndrome results from a deletion in BCAP31.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2168, doi. 10.1002/ajmg.a.61755
    By:
    • Louie, Raymond J.;
    • Collins, Debra L.;
    • Friez, Michael J.;
    • Skinner, Cindy;
    • Schwartz, Charles E.;
    • Stevenson, Roger E.
    Publication type:
    Article
    12

    Growth in individuals with Saul–Wilson syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2110, doi. 10.1002/ajmg.a.61754
    By:
    • Ferreira, Carlos R.;
    • Niiler, Timothy;
    • Duker, Angela L.;
    • Jackson, Andrew P.;
    • Bober, Michael B.
    Publication type:
    Article
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    Farber disease in a patient from China.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2184, doi. 10.1002/ajmg.a.61752
    By:
    • Bao, Xudong;
    • Ma, Mingsheng;
    • Zhang, Zhenjie;
    • Xu, Yiwen;
    • Qiu, Zhengqing
    Publication type:
    Article
    15

    Sotos syndrome in two children from India.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2181, doi. 10.1002/ajmg.a.61751
    By:
    • Panigrahi, Inusha;
    • Chaudhry, Chakshu
    Publication type:
    Article
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    Complete blood count differences in a cohort of Down syndrome neonates with transient abnormal myelopoiesis screened for GATA1 pathogenic variants.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2085, doi. 10.1002/ajmg.a.61748
    By:
    • Orozco‐Vela, Mireya;
    • Corona‐Rivera, Alfredo;
    • Cruz‐Osorio, Rosa Margarita;
    • Mendoza‐Maldonado, Lucero;
    • Márquez‐Mora, Aurea;
    • Barba‐Barba, César Cenobio;
    • Peña‐Padilla, Christian;
    • Baldomero‐López, Alejandra;
    • Bobadilla‐Morales, Lucina;
    • Corona‐Rivera, Jorge Román
    Publication type:
    Article
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    Bone fractures in children with trisomy 13 and 18.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2187, doi. 10.1002/ajmg.a.61745
    By:
    • Weaver, Meaghann S.;
    • Hauschild, Kelly;
    • Beavers, Angela J.;
    • Birge, Nicole;
    • Lisowyj, Elizabeth;
    • Norton, Bridget M.;
    • Shostrom, Valerie K.;
    • Haney, Suzanne
    Publication type:
    Article
    22

    A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2152, doi. 10.1002/ajmg.a.61743
    By:
    • Aukema, Sietse M.;
    • ten Brinke, Gerdien A.;
    • Timens, Wim;
    • Vos, Yvonne J.;
    • Accord, Ryan E.;
    • Kraft, Karianne E.;
    • Santing, Michiel J.;
    • Morssink, Leonard P.;
    • Streefland, Esther;
    • Diemen, Cleo C.;
    • Vrijlandt, Elianne JLE;
    • Hulzebos, Christian V.;
    • Kerstjens‐Frederikse, Wilhelmina S.
    Publication type:
    Article
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    An Indian child with Coats plus syndrome due to mutations in STN1.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2139, doi. 10.1002/ajmg.a.61737
    By:
    • Passi, Gouri Rao;
    • Shamim, Uzma;
    • Rathore, Surabhi;
    • Joshi, Aditi;
    • Mathur, Aradhana;
    • Parveen, Shaista;
    • Sharma, Pooja;
    • Crow, Yanick J.;
    • Faruq, Mohammed
    Publication type:
    Article
    26

    Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2068, doi. 10.1002/ajmg.a.61735
    By:
    • Suter, Aude‐Annick;
    • Santos‐Simarro, Fernando;
    • Toerring, Pernille Mathiesen;
    • Abad Perez, Angela;
    • Ramos‐Mejia, Rosario;
    • Heath, Karen E.;
    • Huckstadt, Victoria;
    • Parrón‐Pajares, Manuel;
    • Mensah, Martin Atta;
    • Hülsemann, Wiebke;
    • Holtgrewe, Manuel;
    • Mundlos, Stefan;
    • Kornak, Uwe;
    • Bartsch, Oliver;
    • Ehmke, Nadja
    Publication type:
    Article
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    The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2058, doi. 10.1002/ajmg.a.61732
    By:
    • Li, Dong;
    • Ahrens‐Nicklas, Rebecca C.;
    • Baker, Janice;
    • Bhambhani, Vikas;
    • Calhoun, Amy;
    • Cohen, Julie S.;
    • Deardorff, Matthew A.;
    • Fernández‐Jaén, Alberto;
    • Kamien, Benjamin;
    • Jain, Mahim;
    • Mckenzie, Fiona;
    • Mintz, Mark;
    • Motter, Constance;
    • Niles, Kirsten;
    • Ritter, Alyssa;
    • Rogers, Curtis;
    • Roifman, Maian;
    • Townshend, Sharron;
    • Ward‐Melver, Catherine;
    • Schrier Vergano, Samantha A.
    Publication type:
    Article
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    Genotype–phenotype correlation at codon 1740 of SETD2.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2037, doi. 10.1002/ajmg.a.61724
    By:
    • Rabin, Rachel;
    • Radmanesh, Alireza;
    • Glass, Ian A.;
    • Dobyns, William B.;
    • Aldinger, Kimberly A.;
    • Shieh, Joseph T.;
    • Romoser, Shelby;
    • Bombei, Hannah;
    • Dowsett, Leah;
    • Trapane, Pamela;
    • Bernat, John A.;
    • Baker, Janice;
    • Mendelsohn, Nancy J.;
    • Popp, Bernt;
    • Siekmeyer, Manuela;
    • Sorge, Ina;
    • Sansbury, Francis Hugh;
    • Watts, Patrick;
    • Foulds, Nicola C.;
    • Burton, Jennifer
    Publication type:
    Article
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    Publication schedule for 2020.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 1997, doi. 10.1002/ajmg.a.61243
    Publication type:
    Article
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