MECP2 deletions and genotype–phenotype correlation in Rett syndrome

2007 ◽  
Vol 143A (23) ◽  
pp. 2775-2784 ◽  
Author(s):  
Elisa Scala ◽  
Ilaria Longo ◽  
Federica Ottimo ◽  
Caterina Speciale ◽  
Katia Sampieri ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation

2001 ◽  
Vol 18 (3) ◽  
pp. 253-253 ◽  
Author(s):  
Yasukazu Yamada ◽  
Kiyokuni Miura ◽  
Toshiyuki Kumagai ◽  
Chiemi Hayakawa ◽  
Shuji Miyazaki ◽  
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Keyword(s):  
Rett Syndrome ◽  
Molecular Analysis ◽  
Japanese Patients ◽  
Phenotype Correlation ◽  
Novel Mutations ◽  
Genotype Phenotype Correlation

Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation

2001 ◽  
Vol 23 ◽  
pp. S242-S245 ◽  
Author(s):  
L. Giunti ◽  
S. Pelagatti ◽  
V. Lazzerini ◽  
S. Guarducci ◽  
E. Lapi ◽  
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Rett Syndrome ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

P31.9 Genotype-phenotype correlation in Rett syndrome (EEG investigation)

2006 ◽  
Vol 117 ◽  
pp. 152 ◽  
Author(s):  
N. Gorbachevskaya ◽  
V. Voinova-Ulas ◽  
A. Sorokin ◽  
I. Iourov ◽  
A. Boudilov ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

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

scholarly journals Genotype‐phenotype correlation identified a novel SARS‐CoV‐2 variant possibly linked to severe disease

2021 ◽  
Author(s):  
Tom Loney ◽  
Hamda Khansaheb ◽  
Sathishkumar Ramaswamy ◽  
Divinlal Harilal ◽  
Zulfa Omar Deesi ◽  
...  
Keyword(s):  
Severe Disease ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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