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

Journal

1 - 10 out of 28Page size: 10

Publications

  1. 2020
  2. E-pub ahead of print

    Earlier detection of hypochondroplasia: A large single‐center UK case series and systematic review

    14 Oct 2020, (E-pub ahead of print) In: American Journal of Medical Genetics Part A.

    Research output: Contribution to journal › Article › peer-review

  3. 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, (E-pub ahead of print) In: American Journal of Medical Genetics. Part A.

    Research output: Contribution to journal › Article › peer-review

  4. 2018
  5. E-pub ahead of print

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

    Kate Woodcock & , 5 Oct 2018, (E-pub ahead of print) In: American Journal of Medical Genetics. Part A. 10 p.

    Research output: Contribution to journal › Article › peer-review

  6. 2017
  7. 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 › peer-review

  8. E-pub ahead of print

    Phenotypes and genotypes in individuals with SMC1A variants

    & 28 others, , , , , , , , , , , , , , , Chris Oliver, , , , , , , , , , , , & , 26 May 2017, (E-pub ahead of print) In: American Journal of Medical Genetics. Part A.

    Research output: Contribution to journal › Article › peer-review

  9. 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, (E-pub ahead of print) In: American Journal of Medical Genetics. Part A.

    Research output: Contribution to journal › Article › peer-review

  10. 2016
  11. 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 › peer-review

  12. 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 › peer-review

  13. 2015
  14. 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 › peer-review

  15. 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 › peer-review

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