Author response for "MRX93 syndrome ( BRWD3 gene): five new patients with novel mutations"

2018 ◽  
Author(s):  
Jair Tenorio ◽  
Pablo Alarcón ◽  
Pedro Arias ◽  
Feliciano J. Ramos ◽  
Jaume Campistol ◽  
...  
Keyword(s):  
Author Response ◽  
Novel Mutations ◽  
I Gene

Author response for "MRX93 syndrome ( BRWD3 gene): five new patients with novel mutations"

2019 ◽  
Author(s):  
Jair Tenorio ◽  
Pablo Alarcón ◽  
Pedro Arias ◽  
Feliciano J. Ramos ◽  
Jaume Campistol ◽  
...  
Keyword(s):  
Author Response ◽  
Novel Mutations ◽  
I Gene

Novel Mutations in the EPO-R, VHL Genes and a Reported Mutation in EPAS1 Gene in the Congenital Erythrocytosis Patients in a Southern State of India

2019 ◽  
Author(s):  
Chodimella Chandrasekhar ◽  
Pasupuleti Santhosh Kumar ◽  
Potukuchi Venkata Gurunadha Krishna Sarma
Keyword(s):  
Novel Mutations ◽  
Southern State ◽  
I Gene

Author response for "H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus"

2020 ◽  
Author(s):  
Jian Ding ◽  
Qin‐Fei Miao ◽  
Jing‐Wen Zhang ◽  
Yu‐Xiong Guo ◽  
Yu‐Xin Zhang ◽  
...  
Keyword(s):  
Febrile Seizures ◽  
Author Response ◽  
Genetic Epilepsy ◽  
Febrile Seizures Plus ◽  
I Gene

Author response for "New evidence that bi‐allelic loss of function in EEF1B2 gene leads to intellectual disability"

2019 ◽  
Author(s):  
Lise Larcher ◽  
Julien Buratti ◽  
Bénédicte Héron‐Longe ◽  
Brigitte Benzacken ◽  
Eva Pipiras ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Author Response ◽  
Allelic Loss ◽  
Loss Of Function ◽  
New Evidence ◽  
I Gene

Author response for "De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia"

2020 ◽  
Author(s):  
Jan Hendrik Niemann ◽  
Chen Du ◽  
Susanne Morlot ◽  
Gunnar Schmidt ◽  
Bernd Auber ◽  
...  
Keyword(s):  
De Novo ◽  
Author Response ◽  
Missense Variants ◽  
I Gene

Author response for "Candidate foraging gene orthologs in a lower termite, Reticulitermes flavipes"

2019 ◽  
Author(s):  
Austin Merchant ◽  
Dongyan Song ◽  
Xiaowei Yang ◽  
Xiangrui Li ◽  
Xuguo “Joe” Zhou
Keyword(s):  
Reticulitermes Flavipes ◽  
Author Response ◽  
Lower Termite ◽  
Gene Orthologs ◽  
I Gene
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