New & Updated Pages
New Pages
May 1, 2018
April 25, 2018
April 11, 2018
- ABAT gene
- Depression
- GABA-transaminase deficiency
- GJC2 gene
- Pelizaeus-Merzbacher-like disease type 1
- What are secondary findings from genetic testing?
April 3, 2018
March 27, 2018
March 13, 2018
February 27, 2018
February 13, 2018
February 6, 2018
- DVL3 gene
- FZD2 gene
- Gorlin-Chaudhry-Moss syndrome
- Isolated sulfite oxidase deficiency
- Polycystic ovary syndrome
- SLC25A24 gene
- SUOX gene
- What is newborn genomic sequencing?
January 30, 2018
January 23, 2018
January 16, 2018
January 9, 2018
December 29, 2017
December 19, 2017
December 12, 2017
- Are moles determined by genetics?
- CYP24A1 gene
- Idiopathic infantile hypercalcemia
- Is hair color determined by genetics?
- Seasonal affective disorder
- SLC34A1 gene
- Yao syndrome
December 5, 2017
- ADAR gene
- CDKL5 deficiency disorder
- FKBP14 gene
- Is height determined by genetics?
- Opioid addiction
- OPRM1 gene
- TRNT1 deficiency
- TRNT1 gene
November 21, 2017
November 14, 2017
November 7, 2017
- Dementia with Lewy bodies
- GPR101 gene
- Mitochondrial complex I deficiency
- Mitochondrial complex V deficiency
- SNCB gene
- TMEM70 gene
- X-linked acrogigantism
October 31, 2017
October 24, 2017
October 17, 2017
- ACTG2 gene
- Age-related hearing loss
- Complete plasminogen activator inhibitor 1 deficiency
- Megacystis-microcolon-intestinal hypoperistalsis syndrome
- SERPINE1 gene
October 10, 2017
October 3, 2017
September 12, 2017
September 5, 2017
- 5q31.3 microdeletion syndrome
- NGLY1-congenital disorder of deglycosylation
- NGLY1 gene
- PPP2R5D gene
- PPP2R5D-related intellectual disability
- PURA gene
- PURA syndrome
- TUBB4A gene
- TUBB4A-related leukodystrophy
- What are genome editing and CRISPR-Cas9?
August 29, 2017
August 22, 2017
August 8, 2017
August 2, 2017
- Aldosterone-producing adenoma
- Anauxetic dysplasia
- ATP1A1 gene
- Blepharocheilodontic syndrome
- CACNA1D gene
- CTNND1 gene
- Grange syndrome
- JAK3-deficient severe combined immunodeficiency
- JAK3 gene
- SCN8A gene
- SCN8A-related epilepsy with encephalopathy
- STXBP1 encephalopathy with epilepsy
- STXBP1 gene
- YY1AP1 gene
July 25, 2017
July 18, 2017
- Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- Genetic epilepsy with febrile seizures plus
- Gordon Holmes syndrome
- RNF216 gene
July 11, 2017
July 5, 2017
- ASH1L gene
- Autism spectrum disorder
- CHD8 gene
- DYRK1A gene
- POGZ gene
- Trichorhinophalangeal syndrome type I
June 27, 2017
June 13, 2017
June 6, 2017
May 30, 2017
May 16, 2017
May 9, 2017
- FBXL4 gene
- FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
- MAOA gene
- Monoamine oxidase A deficiency
- PADI3 gene
- TCHH gene
- TGM3 gene
- Uncombable hair syndrome
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