Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I

2017 ◽  
Vol 32 (5) ◽  
pp. 1417-1426 ◽  
Author(s):  
Ahmed Mosaeilhy ◽  
Magdy M. Mohamed ◽  
George Priya Doss C ◽  
Heba S. A. El Abd ◽  
Radwa Gamal ◽  
...  
Keyword(s):  
Type I ◽  
Phenotype Correlation ◽  
Glutaric Acidemia Type I ◽  
Genotype Phenotype Correlation ◽  
Egyptian Patients

scholarly journals Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria

2001 ◽  
Vol 10 (4) ◽  
pp. 305-316 ◽  
Author(s):  
Mariona Font ◽  
Lídia Feliubadaló ◽  
Xavier Estivill ◽  
Virginia Nunes ◽  
Eliahu Golomb ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Type I ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype–phenotype correlation

2016 ◽  
Vol 95 (3) ◽  
pp. 659-666 ◽  
Author(s):  
SAOUSSEN M’DIMEGH ◽  
CÉCILE AQUAVIVA-BOURDAIN ◽  
ASMA OMEZZINE ◽  
IBTIHEL M’BAREK ◽  
GENEVIÉVE SOUCHE ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Primary Hyperoxaluria ◽  
Type I ◽  
Phenotype Correlation ◽  
Primary Hyperoxaluria Type ◽  
Genotype Phenotype Correlation ◽  
Hyperoxaluria Type I ◽  
Primary Hyperoxaluria Type I ◽  
Agxt Gene ◽  
Hyperoxaluria Type

Type I Procollagen C-Propeptide Defects: Study of Genotype-Phenotype Correlation and Predictive Role of Crystal Structure

2014 ◽  
pp. n/a-n/a ◽  
Author(s):  
Sofie Symoens ◽  
David J.S. Hulmes ◽  
Jean-Marie Bourhis ◽  
Paul J. Coucke ◽  
Anne De Paepe ◽  
...  
Keyword(s):  
Crystal Structure ◽  
Type I ◽  
Phenotype Correlation ◽  
Type I Procollagen ◽  
Genotype Phenotype Correlation ◽  
Predictive Role

Cloning of multiple K16 genes and genotype-phenotype correlation in pachyonychia congenita type I and focal PPK

1998 ◽  
Vol 16 ◽  
pp. S31
Author(s):  
Frances J.D. Smith ◽  
Peter M. Steijlen ◽  
Kevin McKenna ◽  
Eugene Healy ◽  
Jonathan L. Rees ◽  
...  
Keyword(s):  
Type I ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Pachyonychia Congenita

NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

2013 ◽  
Vol 34 (11) ◽  
pp. 1510-1518 ◽  
Author(s):  
Audrey Sabbagh ◽  
Eric Pasmant ◽  
Apolline Imbard ◽  
Armelle Luscan ◽  
Magali Soares ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
French Experience

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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