scholarly journals Genotype-phenotype correlation in primary carnitine deficiency

2011 ◽  
Vol 33 (1) ◽  
pp. 118-123 ◽  
Author(s):  
Emily C. Rose ◽  
Cristina Amat di San Filippo ◽  
Uzochi C. Ndukwe Erlingsson ◽  
Orly Ardon ◽  
Marzia Pasquali ◽  
...  
Keyword(s):  
Carnitine Deficiency ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Primary Carnitine Deficiency

scholarly journals Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation

2013 ◽  
Vol 34 (4) ◽  
pp. 655-655 ◽  
Author(s):  
Yi-Chen Chen ◽  
Yin-Hsiu Chien ◽  
Pin-Wen Chen ◽  
Nelson Leung-Sang Tang ◽  
Pao-Chin Chiu ◽  
...  
Keyword(s):  
Carnitine Deficiency ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Primary Carnitine Deficiency ◽  
Carnitine Uptake

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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