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Authors: Gary A. Silverman
Journal Article
Macrocephaly and developmental delay caused by missense variants in RAB5C Open Access
Human Molecular Genetics, Volume 32, Issue 21, 1 November 2023, Pages 3063–3077, https://doi.org/10.1093/hmg/ddad130
Published: 08 August 2023
Journal Article
A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover Get access
Human Molecular Genetics, Volume 23, Issue 19, 1 October 2014, Pages 5109–5122, https://doi.org/10.1093/hmg/ddu235
Published: 16 May 2014
Journal Article
A genome-wide RNAi screen identifies potential drug targets in a C. elegans model of α1-antitrypsin deficiency Get access
Human Molecular Genetics, Volume 23, Issue 19, 1 October 2014, Pages 5123–5132, https://doi.org/10.1093/hmg/ddu236
Published: 16 May 2014
Journal Article
An 18q − Syndrome Breakpoint Resides between the Duplicated Serpins SCCA1 and SCCA2 and Arises Via a Cryptic Rearrangement With Satellite III DNA Get access
Human Molecular Genetics, Volume 8, Issue 1, January 1999, Pages 87–92, https://doi.org/10.1093/hmg/8.1.87
Published: 01 January 1999
Journal Article
pMCT108.2 is a chimaeric clone which physically maps to human chromosome bands 9q33 (D9S203) and 18q21.1 (D18S24) Get access
Human Molecular Genetics, Volume 2, Issue 3, March 1993, Page 332, https://doi.org/10.1093/hmg/2.3.332
Published: 01 March 1993
Journal Article
Reassignment of pEFD70.3 (D18S23) to human chromosome band 21q22.2 (D21S412) by physical mapping Get access
Human Molecular Genetics, Volume 2, Issue 3, March 1993, Page 331, https://doi.org/10.1093/hmg/2.3.331
Published: 01 March 1993
