Genetics in Medicine, 1098-3600

Journal

1 - 5 out of 5Page size: 10

Publications

  1. 2021
  2. Published

    Janus-faced EPHB4-associated disorders – novel pathogenic variants and unreported intrafamilial overlapping phenotypes

    & 12 others, , Mark Kilby, 16 Apr 2021, In: Genetics in Medicine.

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

  3. 2020
  4. Accepted/In press

    Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome

    Cristina Ronchi, Davide Calebiro, 25 Aug 2020, (Accepted/In press) In: Genetics in Medicine.

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

  5. 2018
  6. E-pub ahead of print

    Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

    Eamonn Maher & Mark Kilby, 8 Oct 2018, (E-pub ahead of print) In: Genetics in Medicine. 9 p.

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

  7. 2017
  8. Published

    Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies

    Ben Fletcher, Mar 2017, In: Genetics in Medicine. 19, 3, p. 283-293 11 p.

    Research output: Contribution to journal › Review article › peer-review

  9. 2006
  10. Published

    A "neglected part of the curriculum" or "of limited use"? Views on genetics training by nongenetics medical trainees and implications for delivery

    Wakefield Burke, Julie Bedward, Hywel Thomas, 1 Feb 2006, In: Genetics in Medicine. 8, 2, p. 109-115 7 p.

    Research output: Contribution to journal › Article