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Search Results - Barraza-Garcia, J.
Search Results - Barraza-Garcia, J.
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Broadening the phenotypic spectrum of POP1‐skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia
by
Barraza‐García, J.
,
Rivera‐Pedroza, C.I.
,
Hisado‐Oliva, A.
,
Belinchón‐Martínez, A.
,
Sentchordi‐Montané, L.
,
Duncan, E.L.
,
Clark, G.R.
,
del Pozo, A.
,
Ibáñez‐Garikano, K.
,
Offiah, A.
,
Prieto‐Matos, P.
,
Cormier‐Daire, V.
,
Heath, K.E.
Published in
Clinical genetics
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4381Prognostic implications of pathogenic truncating variants in the TTN gene
by
Cicerchia, M N
,
Pena Pena, M L
,
Salazar Mendiguchia, J
,
Ochoa, J
,
Lamounier Junior, A
,
Trujillo, J P
,
Palomino Doza, J
,
Cardenar Reyes, I
,
Garcia Giustiniani, D
,
Fernandez Fernandez, X
,
Barraza Garcia, J
,
Rodriguez Garrido, J
,
Barriales Villa, R
,
Ortiz-Genga, M
,
Monserrat Iglesias, L
Published in
European heart journal
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602Sudden death risk in carriers of KCNH2 mutations. Influence of gender, location and type of mutation
by
Garcia-Giustiniani, DA
,
Ochoa, JP
,
Ortiz-Genga, M.
,
Barriales-Villa, R.
,
Salazar-Mendiguchia, J.
,
Cicerchia, M.
,
Lamounier Junior, A.
,
Rodriguez-Garrido, J.
,
Barraza-Garcia, J.
,
Cardenas-Reyes, I.
,
Fernandez-Fernandez, X.
,
Trujillo-Quintero, JP
,
Monserrat, L.
Published in
Europace (London, England)
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Clinical Genetics
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Europace
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European Heart Journal
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Subjects
Anauxetic Dysplasia
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Apoptosis Regulatory Proteins - Genetics
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Bone
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Bone Dysplasia
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Cartilage-Hair Hypoplasia
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Child
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Child, Preschool
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Dwarfism - Diagnostic Imaging
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Dwarfism - Genetics
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Dwarfism - Physiopathology
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Evolution
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Female
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Gene Deletion
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Genetic Predisposition To Disease
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Genetics & Heredity
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Homozygote
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Humans
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Life Sciences & Biomedicine
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Male
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Missense Mutation
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