scholarly journals Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

2000 ◽  
Vol 66 (2) ◽  
pp. 402-412 ◽  
Author(s):  
M. Witsch-Baumgartner ◽  
B.U. Fitzky ◽  
M. Ogorelkova ◽  
H.G. Kraft ◽  
F.F. Moebius ◽  
...  
Keyword(s):  
Phenotype Correlation ◽  
Mutational Spectrum ◽  
Genotype Phenotype Correlation ◽  
Reductase Gene ◽  
Opitz Syndrome

scholarly journals Mutational Spectrum of theZEB1Gene in Corneal Dystrophies Supports a Genotype–Phenotype Correlation

2013 ◽  
Vol 54 (5) ◽  
pp. 3215 ◽  
Author(s):  
Judith Lechner ◽  
Durga P. Dash ◽  
Dorota Muszynska ◽  
Mohsen Hosseini ◽  
Fani Segev ◽  
...  
Keyword(s):  
Phenotype Correlation ◽  
Corneal Dystrophies ◽  
Mutational Spectrum ◽  
Genotype Phenotype Correlation

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

1999 ◽  
Vol 105 (5) ◽  
pp. 468-473 ◽  
Author(s):  
J. Mallolas ◽  
M. Antònia Vilaseca ◽  
J. Campistol ◽  
N. Lambruschini ◽  
F. José Cambra ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Phenotype Correlation ◽  
Hydroxylase Deficiency ◽  
Mutational Spectrum ◽  
Genotype Phenotype Correlation

Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome

2019 ◽  
Author(s):  
Pelin Ozlem Simsek‐Kiper ◽  
Ekim Taskiran ◽  
Can Kosukcu ◽  
Umut Ece Arslan ◽  
Valérie Cormier‐Daire ◽  
...  
Keyword(s):  
Phenotype Correlation ◽  
Mutational Spectrum ◽  
Genotype Phenotype Correlation

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

1999 ◽  
Vol 105 (5) ◽  
pp. 468-473 ◽  
Author(s):  
J. Mallolas ◽  
M. Antònia Vilaseca ◽  
J. Campistol ◽  
N. Lambruschini ◽  
F. José Cambra ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Phenotype Correlation ◽  
Hydroxylase Deficiency ◽  
Mutational Spectrum ◽  
Genotype Phenotype Correlation

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome

2004 ◽  
Vol 66 (6) ◽  
pp. 517-524 ◽  
Author(s):  
E Ciara ◽  
MJM Nowaczyk ◽  
M Witsch-Baumgartner ◽  
E Malunowicz ◽  
E Popowska ◽  
...  
Keyword(s):  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Opitz Syndrome

A novel mutation in CDMP1 causes brachydactyly type C with “angel-shaped phalanx”. A genotype–phenotype correlation in the mutational spectrum

2012 ◽  
Vol 55 (11) ◽  
pp. 611-614 ◽  
Author(s):  
Bianca Ethel Gutiérrez-Amavizca ◽  
Aniel Jessica Leticia Brambila-Tapia ◽  
Clara Ibet Juárez-Vázquez ◽  
Muriel Holder-Espinasse ◽  
Sylvie Manouvrier-Hanu ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Phenotype Correlation ◽  
Mutational Spectrum ◽  
Genotype Phenotype Correlation ◽  
Type C

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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