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Search Results - Julià, X.P.
Search Results - Julià, X.P.
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Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD‐related paraganglioma
by
Hoekstra, A.S.
,
Ende, B.
,
Julià, X.P.
,
Breemen, L.
,
Scheurwater, K.
,
Tops, C.M.
,
Malinoc, A.
,
Devilee, P.
,
Neumann, H.P.H.
,
Bayley, J.‐P.
Published in
Clinical genetics
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P-516 Cell-type specific role of Fragile X Mental Retardation polyglycine protein in blood of women with Fragile X Mental Retardation 1 gene premutation
by
Nguyen, X.P
,
Adriana, V
,
Birgitta, M
,
Jens E, D
,
Katrin, H
,
Thomas, S
,
Julia, R
Published in
Human reproduction (Oxford)
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Clinical Genetics
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Human Reproduction
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Base Sequence - Genetics
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Breakpoint
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Chromosome Breakpoints
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Deletion
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Female
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Genetic Disorders
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Genetic Predisposition To Disease
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Genetics & Heredity
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Genotype & Phenotype
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Germ-Line Mutation
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Heterozygote
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Humans
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Life Sciences & Biomedicine
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Male
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Membrane Proteins - Genetics
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Mutation
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Paraganglioma
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Paraganglioma - Genetics
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Paraganglioma - Pathology
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Pheochromocytoma
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Oxford University Press:jisc Collections:oxford Journal Archive: Access Period 2024-2025
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Wiley-Blackwell Read & Publish Collection
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