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Results 1 - 10 of 35 for FG syndrome 5
  1. ... Testing Registry: FG syndrome 4 Genetic Testing Registry: FG syndrome 5 Genetic Testing Registry: FG syndrome FG syndrome Disease ... FG SYNDROME 4; FGS4 FG SYNDROME 2; FGS2 FG SYNDROME 5; FGS5 PubMed Briault S, Hill R, Shrimpton A, ...
  2. ... Rubio Almanza M, Tome Fernandez-Ladreda M, Debray FG, Bours V, Beckers A. Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes. Front Endocrinol (Lausanne). 2014 Jul 9;5:109. doi: 10.3389/fendo.2014.00109. eCollection ...
  3. ... on PubMed Central Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet. 2006 May;38(5):561-5. doi: 10.1038/ng1775. Epub 2006 ...
  4. ... Citation on PubMed Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet. 2006 May;38(5):561-5. doi: 10.1038/ng1775. Epub 2006 ...
  5. ... on PubMed Central Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet. 2006 May;38(5):561-5. doi: 10.1038/ng1775. Epub 2006 ...
  6. ... Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ. A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet. 2006 Nov;79(5):935-41. doi: 10.1086/508433. Epub 2006 ...
  7. ... the MED12 gene have been found to cause FG syndrome, which is characterized by intellectual disability, behavioral problems, ... anal opening (imperforate anus).The mutations that cause FG syndrome each change a single protein building block (amino ...
  8. ... This Health Condition MedlinePlus Genetics provides information about FG syndrome More About This Health Condition ABP-280 ABPX ... disorders. Eur J Hum Genet. 2006 May;14(5):549-54. doi: 10.1038/sj.ejhg.5201586. ...
  9. ... Disease InfoSearch National Organization for Rare Disorders (NORD) FG SYNDROME 4; FGS4 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND ... phenotypes. Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220. ...
  10. ... This Health Condition MedlinePlus Genetics provides information about FG syndrome More About This Health Condition calcium/calmodulin-dependent ... phenotypes. Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220. ...
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