Results 1 -
10
of
11
for
FG syndrome 3
- ... for Rare Disorders (NORD) OPITZ-KAVEGGIA SYNDROME; OKS FG SYNDROME 3; FGS3 FG SYNDROME 4; FGS4 FG SYNDROME 2; ... RE. Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 ...
- ... SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3):681-90. doi: 10.1086/368294. Citation on ...
- ... SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3):681-90. doi: 10.1086/368294. Citation on ...
- ... hyaline fibromatosis. J Dermatol Sci. 2009 Sep;55(3):197-200. doi: ... hyaline fibromatosis syndrome frameshift mutations at the same site reveal the ...
- ... Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics. ... RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in ...
- ... C Semin Med Genet. 2012 Aug 15;160C(3):154-64. doi: 10.1002/ajmg.c.31331. Epub ... syndrome: an international multicenter study of 161 patients. Oncologist. ...
- ... C Semin Med Genet. 2012 Aug 15;160C(3):154-64. doi: 10.1002/ajmg.c.31331. Epub ... syndrome: an international multicenter study of 161 patients. Oncologist. ...
- ... and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion. Eur J Med ... MC, Garaci FG, Bollero P, Alfieri P, Curatolo P. Neurobehavioral phenotype ...
- ... chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral ... JE, Mayatepek E, Besley G, Valencia A, Hegardt FG. Structural (betaalpha)8 TIM barrel model of 3- ...
- ... 1307-15. doi: 10.1007/s00431-016-2761-3. Epub 2016 Aug 25. Citation on PubMed ... Murday V, Whiteford M, Dikkers FG, Sikkema-Raddatz B, van Essen T, Tolmie J. ...