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Author response for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"
Mapping Intimacies
◽
10.1111/cge.13829/v2/response1
◽
2020
◽
Author(s):
Nima Naseri
◽
Manu Sharma
◽
Milen Velinov
Keyword(s):
Clinical Features
◽
Molecular Basis
◽
Autosomal Dominant
◽
Neuronal Ceroid Lipofuscinosis
◽
Author Response
◽
Ceroid Lipofuscinosis
Download Full-text
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References
Author response for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"
10.1111/cge.13829/v3/response1
◽
2020
◽
Author(s):
Nima Naseri
◽
Manu Sharma
◽
Milen Velinov
Keyword(s):
Clinical Features
◽
Molecular Basis
◽
Autosomal Dominant
◽
Neuronal Ceroid Lipofuscinosis
◽
Author Response
◽
Ceroid Lipofuscinosis
Download Full-text
Review for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"
10.1111/cge.13829/v1/review1
◽
2020
◽
Keyword(s):
Clinical Features
◽
Molecular Basis
◽
Autosomal Dominant
◽
Neuronal Ceroid Lipofuscinosis
◽
Ceroid Lipofuscinosis
Download Full-text
Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis
Clinical Genetics
◽
10.1111/cge.13829
◽
2020
◽
Vol 99
(1)
◽
pp. 111-118
Author(s):
Nima Naseri
◽
Manu Sharma
◽
Milen Velinov
Keyword(s):
Clinical Features
◽
Molecular Basis
◽
Autosomal Dominant
◽
Neuronal Ceroid Lipofuscinosis
◽
Ceroid Lipofuscinosis
Download Full-text
Decision letter for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"
10.1111/cge.13829/v3/decision1
◽
2020
◽
Keyword(s):
Clinical Features
◽
Molecular Basis
◽
Autosomal Dominant
◽
Neuronal Ceroid Lipofuscinosis
◽
Ceroid Lipofuscinosis
Download Full-text
Review for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"
10.1111/cge.13829/v2/review1
◽
2020
◽
Keyword(s):
Clinical Features
◽
Molecular Basis
◽
Autosomal Dominant
◽
Neuronal Ceroid Lipofuscinosis
◽
Ceroid Lipofuscinosis
Download Full-text
Decision letter for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"
10.1111/cge.13829/v1/decision1
◽
2020
◽
Keyword(s):
Clinical Features
◽
Molecular Basis
◽
Autosomal Dominant
◽
Neuronal Ceroid Lipofuscinosis
◽
Ceroid Lipofuscinosis
Download Full-text
Review for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"
10.1111/cge.13829/v2/review2
◽
2020
◽
Keyword(s):
Clinical Features
◽
Molecular Basis
◽
Autosomal Dominant
◽
Neuronal Ceroid Lipofuscinosis
◽
Ceroid Lipofuscinosis
Download Full-text
Decision letter for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"
10.1111/cge.13829/v2/decision1
◽
2020
◽
Keyword(s):
Clinical Features
◽
Molecular Basis
◽
Autosomal Dominant
◽
Neuronal Ceroid Lipofuscinosis
◽
Ceroid Lipofuscinosis
Download Full-text
Review for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"
10.1111/cge.13829/v1/review2
◽
2020
◽
Keyword(s):
Clinical Features
◽
Molecular Basis
◽
Autosomal Dominant
◽
Neuronal Ceroid Lipofuscinosis
◽
Ceroid Lipofuscinosis
Download Full-text
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
European Journal of Human Genetics
◽
10.1038/s41431-019-0567-2
◽
2020
◽
Vol 28
(6)
◽
pp. 783-789
◽
Cited By ~ 2
Author(s):
Ivana Jedličková
◽
◽
Maxime Cadieux-Dion
◽
Anna Přistoupilová
◽
Viktor Stránecký
◽
...
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Autosomal Dominant
◽
Neuronal Ceroid Lipofuscinosis
◽
Ceroid Lipofuscinosis
◽
Whole Exome
Download Full-text
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