scholarly journals BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation

2021 ◽  
Vol 31 (07) ◽  
pp. 780-785
Keyword(s):  
Gene Mutations ◽  
Biotinidase Deficiency ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals A bioinformatics framework for genotype–phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations

2006 ◽  
Vol 39 (2) ◽  
pp. 171-183 ◽  
Author(s):  
Christian Baumgartner ◽  
Gábor Mátyás ◽  
Beat Steinmann ◽  
Martin Eberle ◽  
Jörg I. Stein ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Gene Mutations ◽  
Phenotype Correlation ◽  
Fbn1 Gene ◽  
Genotype Phenotype Correlation

scholarly journals Genotype–phenotype correlation of PAX6 gene mutations in aniridia

2016 ◽  
Vol 3 (1) ◽  
Author(s):  
Tadashi Yokoi ◽  
Sachiko Nishina ◽  
Maki Fukami ◽  
Tsutomu Ogata ◽  
Katsuhiro Hosono ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Pax6 Gene ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Frequency of three common card15/Nod 2 gene mutations and genotype/ phenotype correlation in a single center german IBD cohort

2003 ◽  
Vol 124 (4) ◽  
pp. A376
Author(s):  
Fabian Schnitzler ◽  
Peter Lohse ◽  
Michael Sackmann ◽  
Burkhard Goeke ◽  
Thomas Ochsenkuhn
Keyword(s):  
Gene Mutations ◽  
Single Center ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy

2009 ◽  
Vol 30 (10) ◽  
pp. E936-E945 ◽  
Author(s):  
Martina Cesani ◽  
Alessia Capotondo ◽  
Tiziana Plati ◽  
Lucia Sergi Sergi ◽  
Francesca Fumagalli ◽  
...  
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Gene Mutations ◽  
Arylsulfatase A ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations

2000 ◽  
Vol 8 (11) ◽  
pp. 837-845 ◽  
Author(s):  
Fabrice Cailloux ◽  
◽  
Fernande Gauthier-Barichard ◽  
Corinne Mimault ◽  
Valerie Isabelle ◽  
...  
Keyword(s):  
Protein Gene ◽  
Gene Mutations ◽  
Proteolipid Protein ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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