Subject: genetics -- congenital disorders - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Subject genetics -- congenital disorders

1. Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation. Issue 8 (30th August 2019)

Authors:: Sihombing, Nydia Rena Benita; de Leeuw, Nicole; van Bokhoven, Hans; Faradz, Sultana MH
Journal:: BMJ case reports
Issue:: Volume 12:Issue 8(2019)
Page Start:
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

2. First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be?. Issue 3 (7th March 2022)

Authors:: Taylor, James; Balasubramanian, Meena
Journal:: BMJ case reports
Issue:: Volume 15:Issue 3(2022)
Page Start:
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗