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Last 12 months

July 27, 2015

July 19, 2015

July 13, 2015

July 6, 2015

June 15, 2015

June 1, 2015

May 25, 2015

May 18, 2015

May 11, 2015

May 4, 2015

  • Gene: FAM83H: family with sequence similarity 83, member H

April 28, 2015

April 20, 2015

April 13, 2015

April 6, 2015

March 30, 2015

March 23, 2015

March 16, 2015

  • Condition: isolated ectopia lentis
  • Gene: ADAMTSL4: ADAMTS-like 4
  • Gene: HEPACAM: hepatic and glial cell adhesion molecule
  • Gene: MAP3K1: mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
  • Gene: TRIP11: thyroid hormone receptor interactor 11

March 10, 2015

March 2, 2015

February 23, 2015

February 2, 2015

January 27, 2015

January 19, 2015

January 12, 2015

  • Condition: renal hypouricemia
  • Gene: SLC2A9: solute carrier family 2 (facilitated glucose transporter), member 9
  • Gene: SLC22A12: solute carrier family 22 (organic anion/urate transporter), member 12

January 5, 2015

December 29, 2014

December 22, 2014

December 16, 2014

December 9, 2014

December 1, 2014

  • Condition: 1q21.1 microduplication
  • Condition: Perrault syndrome
  • Gene: CLPP: caseinolytic mitochondrial matrix peptidase proteolytic subunit
  • Gene: EXOSC3: exosome component 3
  • Gene: HARS2: histidyl-tRNA synthetase 2, mitochondrial
  • Gene: LARS2: leucyl-tRNA synthetase 2, mitochondrial
  • Gene: SEPSECS: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

November 24, 2014

November 17, 2014

November 11, 2014

  • Condition: bradyopsia
  • Gene: RGS9: regulator of G-protein signaling 9
  • Gene: RGS9BP: regulator of G protein signaling 9 binding protein

November 4, 2014

October 27, 2014

October 20, 2014

October 6, 2014

September 29, 2014

September 22, 2014

September 15, 2014

September 8, 2014

September 1, 2014

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Published: August 24, 2015