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Homozygous EXOSC3 Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma
by
Schwabova, Jaroslava
,
Brozkova, Dana Safka
,
Petrak, Borivoj
,
Mojzisova, Mahulena
,
Pavlickova, Klara
,
Haberlova, Jana
,
Mrazkova, Lenka
,
Hedvicakova, Petra
,
Hornofova, Ludmila
,
Kaluzova, Marie
,
Fencl, Filip
,
Krutova, Marcela
,
Zamecnik, Josef
,
Seeman, Pavel
Published in
Journal of neurogenetics
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The importance of advanced parental age in the origin of neurofibromatosis type 1
by
Snajderova, Marta
,
Riccardi, Vincent M.
,
Petrak, Borivoj
,
Zemkova, Daniela
,
Zapletalova, Jirina
,
Mardesic, Tonko
,
Petrakova, Alena
,
Lanska, Vera
,
Marikova, Tatiana
,
Bendova, Sarka
,
Havlovicova, Marketa
,
Kaluzova, Marie
Published in
American journal of medical genetics. Part A
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American Journal Of Medical Genetics. Part A
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Journal Of Neurogenetics
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Genetics & Heredity
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Humans
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Life Sciences & Biomedicine
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Advanced Maternal Age
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Case-Control Studies
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Czech Republic
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Exosome Multienzyme Ribonuclease Complex - Genetics
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Female
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Germ-Line Mutation
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Haplotypes
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Homozygote
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Medical Genetics
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Access Via Wiley Online Library
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Taylor And Francis:jisc Collections:taylor And Francis Read And Publish Agreement 2024-2025:Medical Collection (Reading List)
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Wiley:jisc Collections:wiley Read And Publish Open Access 2024-2025 (Reading List)
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