Functional characterization of BRCA1 gene variants by mini-gene splicing assay

European Journal of Human Genetics ◽

10.1038/ejhg.2014.40 ◽

2014 ◽

Vol 22 (12) ◽

pp. 1362-1368 ◽

Author(s):

Ane Y Steffensen ◽

Mette Dandanell ◽

Lars Jønson ◽

Bent Ejlertsen ◽

Anne-Marie Gerdes ◽

...

Keyword(s):

Functional Characterization ◽

Gene Variants ◽

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Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay

Frontiers in Genetics ◽

10.3389/fgene.2019.00436 ◽

2019 ◽

Vol 10 ◽

Author(s):

Yanyun Wang ◽

Yun Sun ◽

Ming Liu ◽

Xiaojuan Zhang ◽

Tao Jiang

Keyword(s):

Functional Characterization ◽

Gene Variants ◽

Argininosuccinate Lyase ◽

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Decision letter for "Functional Characterization of PHEX Gene Variants in Children with X‐linked Hypophosphatemic Rickets Shows no Evidence of Genotype‐Phenotype Correlation"

10.1002/jbmr.4035/v1/decision1 ◽

2020 ◽

Keyword(s):

Functional Characterization ◽

Hypophosphatemic Rickets ◽

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Functional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies

Human Molecular Genetics ◽

10.1093/hmg/ddu369 ◽

2014 ◽

Vol 23 (24) ◽

pp. 6495-6511 ◽

Author(s):

Chie Shimamoto ◽

Tetsuo Ohnishi ◽

Motoko Maekawa ◽

Akiko Watanabe ◽

Hisako Ohba ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Functional Characterization ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Gene Variants ◽

Behavioral Studies

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Review for "Functional Characterization of PHEX Gene Variants in Children with X‐linked Hypophosphatemic Rickets Shows no Evidence of Genotype‐Phenotype Correlation"

10.1002/jbmr.4035/v2/review2 ◽

2020 ◽

Keyword(s):

Functional Characterization ◽

Hypophosphatemic Rickets ◽

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Review for "Functional Characterization of PHEX Gene Variants in Children with X‐linked Hypophosphatemic Rickets Shows no Evidence of Genotype‐Phenotype Correlation"

10.1002/jbmr.4035/v1/review1 ◽

2019 ◽

Keyword(s):

Functional Characterization ◽

Hypophosphatemic Rickets ◽

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Functional Characterization of PHEX Gene Variants in Children With X ‐Linked Hypophosphatemic Rickets Shows No Evidence of Genotype–Phenotype Correlation

Journal of Bone and Mineral Research ◽

10.1002/jbmr.4035 ◽

2020 ◽

Vol 35 (9) ◽

pp. 1718-1725

Author(s):

Bixia Zheng ◽

Chunli Wang ◽

Qiuxia Chen ◽

Ruochen Che ◽

Yugen Sha ◽

...

Keyword(s):

Functional Characterization ◽

Hypophosphatemic Rickets ◽

Gene Variants ◽

Phenotype Correlation ◽

Genotype Phenotype Correlation ◽

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Functional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies

Human Molecular Genetics ◽

10.1093/hmg/ddv011 ◽

2015 ◽

Vol 24 (8) ◽

pp. 2409-2409 ◽

Author(s):

C. Shimamoto ◽

T. Ohnishi ◽

M. Maekawa ◽

A. Watanabe ◽

H. Ohba ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Functional Characterization ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Gene Variants ◽

Behavioral Studies

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Decision letter for "Functional Characterization of PHEX Gene Variants in Children with X‐linked Hypophosphatemic Rickets Shows no Evidence of Genotype‐Phenotype Correlation"

10.1002/jbmr.4035/v3/decision1 ◽

2020 ◽

Keyword(s):

Functional Characterization ◽

Hypophosphatemic Rickets ◽

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Review for "Functional Characterization of PHEX Gene Variants in Children with X‐linked Hypophosphatemic Rickets Shows no Evidence of Genotype‐Phenotype Correlation"

10.1002/jbmr.4035/v2/review1 ◽

2020 ◽

Author(s):

Weibo Xia

Keyword(s):

Functional Characterization ◽

Hypophosphatemic Rickets ◽

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Author response for "Functional Characterization of PHEX Gene Variants in Children with X‐linked Hypophosphatemic Rickets Shows no Evidence of Genotype‐Phenotype Correlation"

10.1002/jbmr.4035/v2/response1 ◽

2020 ◽

Author(s):

Bixia Zheng ◽

Chunli Wang ◽

Qiuxia Chen ◽

Ruochen Che ◽

Yugen Sha ◽

...

Keyword(s):

Functional Characterization ◽

Hypophosphatemic Rickets ◽

Author Response ◽

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