scholarly journals Three novel mutations of the MCT8 (SLC16A2) gene: individual and temporal variations of endocrinological and radiological features

2016 ◽  
Vol 25 (2) ◽  
pp. 23-35 ◽  
Author(s):  
Erina Ono ◽  
Masamichi Ariga ◽  
Sakiko Oshima ◽  
Mika Hayakawa ◽  
Masayuki Imai ◽  
...  
Keyword(s):  
Temporal Variations ◽  
Novel Mutations ◽  
Radiological Features ◽  
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 "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

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

Identification of Novel Mutations in the KCNQ4 Gene of Patients with Nonsyndromic Deafness from Taiwan

2007 ◽  
Vol 12 (1) ◽  
pp. 20-26 ◽  
Author(s):  
Ching-Chyuan Su ◽  
Jiann-Jou Yang ◽  
Jia-Ching Shieh ◽  
Mao-Chang Su ◽  
Shuan-Yow Li
Keyword(s):  
Novel Mutations ◽  
Nonsyndromic Deafness ◽  
I Gene

Two novel mutations of FBN1 gene in the patients with MFS among Han population

2010 ◽  
Vol 32 (1) ◽  
pp. 49-53 ◽  
Author(s):  
Qing-Quan CHEN ◽  
Yan-An WU ◽  
Xiao-Li HUANG ◽  
Tong CHEN ◽  
Yi HUANG ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Han Population ◽  
I Gene

Novel Mutations (H337R and 238–362del) in the CPS1 Gene Cause Carbamoyl Phosphate Synthetase I Deficiency

2001 ◽  
Vol 52 (2) ◽  
pp. 99-101 ◽  
Author(s):  
Tsutomu Aoshima ◽  
Mitsuharu Kajita ◽  
Yoshitaka Sekido ◽  
Satoshi Kikuchi ◽  
Izumi Yasuda ◽  
...  
Keyword(s):  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Novel Mutations ◽  
I Gene
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