American Journal of Medical Genetics. Part A, 1552-4825

Journal

1 - 10 out of 27Page size: 10

Publications

  1. 2020
  2. E-pub ahead of print

    Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia

    9 Aug 2020, In : American Journal of Medical Genetics. Part A.

    Research output: Contribution to journal › Article

  3. 2018
  4. E-pub ahead of print

    The Characteristics of Temper Outbursts in Prader-Willi Syndrome: Characteristics of PWS outbursts

    Kate Woodcock, 5 Oct 2018, In : American Journal of Medical Genetics. Part A. 10 p.

    Research output: Contribution to journal › Article

  5. 2017
  6. Published

    Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature

    Grant Stewart, Jun 2017, In : American Journal of Medical Genetics. Part A. 173, 6, p. 1514-1520 7 p.

    Research output: Contribution to journal › Article

  7. E-pub ahead of print

    Phenotypes and genotypes in individuals with SMC1A variants

    & 28 others, , Chris Oliver, 26 May 2017, In : American Journal of Medical Genetics. Part A.

    Research output: Contribution to journal › Article

  8. E-pub ahead of print

    Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age

    Joanna Moss & Chris Oliver, 19 Apr 2017, In : American Journal of Medical Genetics. Part A.

    Research output: Contribution to journal › Article

  9. 2016
  10. Published

    Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations

    Emma Webb, Dec 2016, In : American Journal of Medical Genetics. Part A. 170, 12, p. 3150-6

    Research output: Contribution to journal › Article

  11. Published

    Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation

    Caroline M Gorvin, 1 Nov 2016, In : American Journal of Medical Genetics. Part A. 170, 11, p. 2988-2992 5 p.

    Research output: Contribution to journal › Article

  12. 2015
  13. Published

    The behavioral characteristics of Sotos syndrome

    Krupa Sheth, Joanna Moss, Chris Stinton & Chris Oliver, Dec 2015, In : American Journal of Medical Genetics. Part A. 167, 12, p. 2945-2956 12 p.

    Research output: Contribution to journal › Article

  14. Published

    Behavioral characteristics associated with 19p13.2 microdeletions

    Alice Welham, Joanna Moss, Krupa Sheth, Lucy Wilde & Chris Oliver, 1 Oct 2015, In : American Journal of Medical Genetics. Part A. 167, 10, p. 2334-2343 10 p.

    Research output: Contribution to journal › Article

  15. Published

    A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health

    Chris Oliver, 1 Jul 2015, In : American Journal of Medical Genetics. Part A. 167, 7, p. 1493-1500 8 p.

    Research output: Contribution to journal › Article

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