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The added value of WES reanalysis in the field of genetic d..:

Jalkh, Nadine ; Corbani, Sandra ; Haidar, Zahraa...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s12920-019-0474-y. , 2019

Link: https://amu.hal.science/hal-02048914

RT Journal
T1 <Title>The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftunivaixmarseil:oai:HAL:hal-02048914v1&Exemplar=1&LAN=DE
				
A1 Jalkh, Nadine
A1 Corbani, Sandra
A1 Haidar, Zahraa
A1 Hamdan, Nadine
A1 Farah, Elias
A1 Abou Ghoch, Joelle
A1 Ghosn, Rouba
A1 Salem, Nabiha
A1 Fawaz, Ali
A1 Djambas Khayat, Claudia
A1 Rajab, Mariam
A1 Mourani, Chebl
A1 Moukarzel, Adib
A1 Rassi, Simon
A1 Gerbaka, Bernard
A1 Mansour, Hicham
A1 Baassiri, Malek
A1 Dagher, Rawane
A1 Breich, David
A1 Megarbane, Andre
A1 Desvignes, Jean-Pierre
A1 Delague, Valérie
A1 Mehawej, Cybel
A1 Chouery, Eliane
PB HAL CCSD; BioMed Central
YR 2019
K1 Genetic diagnostics
K1 Lebanon
K1 Mutations
K1 Genetic heterogeneity
K1 NGS
K1 Exome
K1 High throughput sequencing
K1 [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry
K1 Molecular Biology/Genomics [q-bio.GN]
K1 [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry
K1 Molecular Biology/Molecular biology
K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
K1 [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
JF info:eu-repo/semantics/altIdentifier/doi/10.1186/s12920-019-0474-y
LK http://dx.doi.org/https://amu.hal.science/hal-02048914
DO https://amu.hal.science/hal-02048914
SF ELIB - SuUB Bremen

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