scholarly journals A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene

2014 ◽  
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pp. 111-120 ◽  
Author(s):  
Susanne Thiele ◽  
Ralf Werner ◽  
Joachim Grötzinger ◽  
Bettina Brix ◽  
Pia Staedt ◽  
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Keyword(s):  
Large Cohort ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Gnas Gene ◽  
Type Ia

scholarly journals Comprehensive genotype‐phenotype correlation in AP ‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients

2020 ◽  
Vol 99 (1) ◽  
pp. 187-192
Author(s):  
Maryam Beheshtian ◽  
Tara Akhtarkhavari ◽  
Sepideh Mehvari ◽  
Marzieh Mohseni ◽  
Zohreh Fattahi ◽  
...  
Keyword(s):  
Deficiency Syndrome ◽  
Large Cohort ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Iranian Patients

scholarly journals Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients

2004 ◽  
Vol 23 (5) ◽  
pp. 679-684 ◽  
Author(s):  
K. Decaestecker ◽  
E. Decaestecker ◽  
C. Castellani ◽  
M. Jaspers ◽  
H. Cuppens ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Large Cohort ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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