scholarly journals In search of the Holy Grail: NF1 mutation analysis and genotype phenotype correlation

1999 ◽  
Vol 1 (6) ◽  
pp. 245-247 ◽  
Author(s):  
David Viskochil
Keyword(s):  
Mutation Analysis ◽  
Phenotype Correlation ◽  
Holy Grail ◽  
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

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

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

2013 ◽  
Author(s):  
Ponti Emanuela ◽  
Mihalich Alessandra ◽  
Broggi Francesca ◽  
Maria Di Blasio Anna ◽  
Luisa Bianchi Maria
Keyword(s):  
Osteogenesis Imperfecta ◽  
Familial Case ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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