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Page Intent to Treat
A rationale for medical therapy. by hyrjr — last modified Jun 27, 2008 09:41 PM — Relevance: 1%
File ACVR1B File
by hyrjr — last modified Oct 08, 2007 04:14 PM — Relevance: 1%
Page ACVR1B Exon 10
ACVR1B Gene Sequence for exon 10. The complete gene sequence is in a the ACVR1B file by hyrjr — last modified Oct 08, 2007 02:26 PM — Relevance: 1%
File TGF beta pathway
Pathway shows the established and putative intracellular mediators of TGF beta receptor activation by ligand. These include Rho A [JNK,p160], Ras [p38], Tak1 ... by hyrjr — last modified Oct 08, 2007 02:01 PM — Relevance: 1%
Image A picture of my daughter's fingers
This photograph shows the contractures of her fingers and that her right hand is more affected than her left. by hyrjr — last modified Oct 08, 2007 02:00 PM — Relevance: 1%
Page Acknowledgments
by hyrjr — last modified Oct 19, 2007 10:42 AM — Relevance: 1%
Page My Best Guess
A discussion of how I thought about this case and how I decided which genes to sequence -- a working paper. by hyrjr — last modified Oct 27, 2007 01:48 PM — Relevance: 1%
Page A Hypothesis
An in-depth but sometimes speculative discussion of how genetic alterations in the genes of the TGF beta super family of hormones and receptors influence human ... by hyrjr — last modified Oct 16, 2007 06:00 AM — Relevance: 1%
Page A tabular representation of the clinical history and phenotype
This is a tabular form of the clinical data created by Dr. George Church that provides a quick visual summary of the clinical and phenotypic data and ... by hyrjr — last modified Oct 08, 2007 02:01 PM — Relevance: 1%
Page Contact
You can contact me directly through hyrjr52@gmail dot com (spelled out for spam prevention). by hyrjr — last modified Oct 08, 2007 04:14 PM — Relevance: 1%
Page Why?
The reasons for making public a mysterious case. by hyrjr — last modified Oct 08, 2007 02:00 PM — Relevance: 1%
Page Forces shaping our genome -- the Faustian Bargains
There are many evolutionary forces that have a hand in selecting human genomes and the variants that persist through time. This is a short discussion of the ... by hyrjr — last modified Sep 16, 2007 06:08 AM — Relevance: 1%
Page My Resources
An incomplete list of resources to parents and physicians and patients by hyrjr — last modified Aug 18, 2007 06:42 AM — Relevance: 1%
Page Changes in our DNA: Variant or Mutation?
The language of genetics must reflect the reality that most changes or variants we find in the genome have no clinical meaning. by hyrjr — last modified Oct 15, 2007 02:51 PM — Relevance: 1%
Page A daughter with weak muscles
A description of a case of weak muscles, wide eyes, and a forked uvula. (non-physician version) by hyrjr — last modified Sep 13, 2007 07:01 AM — Relevance: 1%
Folder Hugh Rienhoff
Home page by hyrjr — last modified Oct 07, 2007 05:41 PM — Relevance: 1%