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Whole Exome/Genome Sequencing Joint Analysis of a Family wi..:

Ghaleb, Youmna ; Elbitar, Sandy ; Philippi, Anne...
info:eu-repo/semantics/altIdentifier/doi/10.3390/metabo12030262. , 2022

Link: https://hal.science/hal-03642664

RT Journal
T1 <Title>Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftceafr:oai:HAL:hal-03642664v1&Exemplar=1&LAN=DE
				
A1 Ghaleb, Youmna
A1 Elbitar, Sandy
A1 Philippi, Anne
A1 El Khoury, Petra
A1 Azar, Yara
A1 Andrianirina, Miangaly
A1 Loste, Alexia
A1 Abou-Khalil, Yara
A1 Nicolas, Gaël
A1 Le Borgne, Marie
A1 Moulin, Philippe
A1 Di-Filippo, Mathilde
A1 Charrière, Sybil
A1 Farnier, Michel
A1 Yelnick, Cécile
A1 Carreau, Valérie
A1 Ferrières, Jean
A1 Lecerf, Jean-Michel
A1 Derksen, Alexa
A1 Bernard, Geneviève
A1 Gauthier, Marie-Soleil
A1 Coulombe, Benoit
A1 Lütjohann, Dieter
A1 Fin, Bertrand
A1 Boland, Anne
A1 Olaso, Robert
A1 Deleuze, Jean-François
A1 Rabès, Jean-Pierre
A1 Boileau, Catherine
A1 Abifadel, Marianne
A1 Varret, Mathilde
PB HAL CCSD; MDPI
YR 2022
K1 autosomal dominant hypercholesterolemia
K1 CYP7A1
K1 LDL uptake
K1 LDLRAP1
K1 linkage analysis
K1 LRP6
K1 next-generation sequencing
K1 oligogenic hypercholesterolemia
K1 polygenic risk score
K1 protein structural models
K1 [SDV]Life Sciences [q-bio]
K1 [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie
JF info:eu-repo/semantics/altIdentifier/doi/10.3390/metabo12030262
LK http://dx.doi.org/https://hal.science/hal-03642664
DO https://hal.science/hal-03642664
SF ELIB - SuUB Bremen

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