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Review for "MRX93 syndrome ( BRWD3 gene): five new patients with novel mutations"
Mapping Intimacies
◽
10.1111/cge.13504/v2/review1
◽
2018
◽
Keyword(s):
Novel Mutations
◽
I Gene
Download Full-text
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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
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10.2139/ssrn.3502366
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Author(s):
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Author response for "MRX93 syndrome ( BRWD3 gene): five new patients with novel mutations"
10.1111/cge.13504/v3/response1
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2019
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Author(s):
Jair Tenorio
◽
Pablo Alarcón
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...
Keyword(s):
Author Response
◽
Novel Mutations
◽
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Author response for "MRX93 syndrome ( BRWD3 gene): five new patients with novel mutations"
10.1111/cge.13504/v2/response1
◽
2018
◽
Author(s):
Jair Tenorio
◽
Pablo Alarcón
◽
Pedro Arias
◽
Feliciano J. Ramos
◽
Jaume Campistol
◽
...
Keyword(s):
Author Response
◽
Novel Mutations
◽
I Gene
Download Full-text
Decision letter for "MRX93 syndrome ( BRWD3 gene): five new patients with novel mutations"
10.1111/cge.13504/v3/decision1
◽
2019
◽
Keyword(s):
Novel Mutations
◽
I Gene
Download Full-text
Identification of Novel Mutations in the KCNQ4 Gene of Patients with Nonsyndromic Deafness from Taiwan
Audiology and Neurotology
◽
10.1159/000096154
◽
2007
◽
Vol 12
(1)
◽
pp. 20-26
◽
Cited By ~ 19
Author(s):
Ching-Chyuan Su
◽
Jiann-Jou Yang
◽
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Shuan-Yow Li
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Novel Mutations
◽
Nonsyndromic Deafness
◽
I Gene
Download Full-text
Two novel mutations of FBN1 gene in the patients with MFS among Han population
Hereditas (Beijing)
◽
10.3724/sp.j.1005.2010.00049
◽
2010
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Vol 32
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pp. 49-53
◽
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◽
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Novel Mutations
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I Gene
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Review for "MRX93 syndrome ( BRWD3 gene): five new patients with novel mutations"
10.1111/cge.13504/v1/review1
◽
2018
◽
Keyword(s):
Novel Mutations
◽
I Gene
Download Full-text
Decision letter for "MRX93 syndrome ( BRWD3 gene): five new patients with novel mutations"
10.1111/cge.13504/v1/decision1
◽
2018
◽
Keyword(s):
Novel Mutations
◽
I Gene
Download Full-text
Three novel mutations of the MCT8 (SLC16A2) gene: individual and temporal variations of endocrinological and radiological features
Clinical Pediatric Endocrinology
◽
10.1297/cpe.25.23
◽
2016
◽
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◽
pp. 23-35
◽
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Author(s):
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◽
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Keyword(s):
Temporal Variations
◽
Novel Mutations
◽
Radiological Features
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Novel Mutations (H337R and 238–362del) in the CPS1 Gene Cause Carbamoyl Phosphate Synthetase I Deficiency
Human Heredity
◽
10.1159/000053360
◽
2001
◽
Vol 52
(2)
◽
pp. 99-101
◽
Cited By ~ 18
Author(s):
Tsutomu Aoshima
◽
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◽
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◽
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Keyword(s):
Carbamoyl Phosphate Synthetase
◽
Carbamoyl Phosphate
◽
Novel Mutations
◽
I Gene
Download Full-text
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