scholarly journals Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

2005 ◽  
Vol 43 (5) ◽  
pp. 401-405 ◽  
Author(s):  
B Kerr
Keyword(s):  
Mutation Analysis ◽  
Costello Syndrome ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

2001 ◽  
Vol 9 (1) ◽  
pp. 5-12 ◽  
Author(s):  
Naomichi Matsumoto ◽  
RichardJ Leventer ◽  
JulieA Kuc ◽  
StephanieK Mewborn ◽  
Laura L Dudlicek ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Subcortical Band Heterotopia ◽  
Band Heterotopia

HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

2005 ◽  
Vol 140A (1) ◽  
pp. 1-7 ◽  
Author(s):  
Karen W. Gripp ◽  
Angela E. Lin ◽  
Deborah L. Stabley ◽  
Linda Nicholson ◽  
Charles I. Scott ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Costello Syndrome ◽  
Phenotype Correlation

scholarly journals Assessing genotype–phenotype correlation in Costello syndrome using a severity score

2013 ◽  
Vol 15 (7) ◽  
pp. 554-557 ◽  
Author(s):  
Elizabeth M. McCormick ◽  
Elizabeth Hopkins ◽  
Laura Conway ◽  
Sarah Catalano ◽  
Jobayer Hossain ◽  
...  
Keyword(s):  
Severity Score ◽  
Costello Syndrome ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation

2009 ◽  
Vol 54 (3) ◽  
pp. 145-151 ◽  
Author(s):  
Takanobu Otomo ◽  
Takeshi Muramatsu ◽  
Tohru Yorifuji ◽  
Torayuki Okuyama ◽  
Hiroki Nakabayashi ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Japanese Patients ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Mucolipidosis Ii ◽  
Alpha Beta

Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation

2008 ◽  
Vol 74 (4) ◽  
pp. 349-357 ◽  
Author(s):  
A Biffi ◽  
M Cesani ◽  
F Fumagalli ◽  
U Del Carro ◽  
C Baldoli ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Metachromatic Leukodystrophy ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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