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New findings for phenotype-genotype correlations in a large..:

Mercier, Sandra ; Dubourg, Christèle ; Garcelon, Nicolas...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2011-100339. , 2011

Link: https://www.hal.inserm.fr/inserm-00626407

RT Journal
T1 <Title>New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftccsdartic:oai:HAL:inserm-00626407v1&Exemplar=1&LAN=DE
				
A1 Mercier, Sandra
A1 Dubourg, Christèle
A1 Garcelon, Nicolas
A1 Campillo-Gimenez, Boris
A1 Gicquel, Isabelle
A1 Belleguic, Marion
A1 Ratié, Leslie
A1 Pasquier, Laurent
A1 Loget, Philippe
A1 Bendavid, Claude
A1 Jaillard, Sylvie
A1 Rochard, Lucie
A1 Quélin, Chloé
A1 Dupé, Valérie
A1 David, Véronique
A1 Odent, Sylvie
PB HAL CCSD; BMJ Publishing Group
YR 2011
K1 holoprosencephaly (HPE)
K1 SHH
K1 ZIC2
K1 SIX3
K1 TGIF
K1 MESH: Cohort Studies
K1 MESH: Comparative Genomic Hybridization
K1 MESH: Genotype
K1 MESH: Hedgehog Proteins
K1 MESH: Holoprosencephaly
K1 MESH: Homeodomain Proteins
K1 MESH: Humans
K1 MESH: Infant
K1 Newborn
K1 MESH: Male
K1 MESH: Mutation
K1 MESH: Nerve Tissue Proteins
K1 MESH: Nuclear Proteins
K1 MESH: DNA Mutational Analysis
K1 MESH: Pedigree
K1 MESH: Phenotype
K1 MESH: Pregnancy
K1 MESH: Prosencephalon
K1 MESH: Repressor Proteins
K1 MESH: Severity of Illness Index
K1 MESH: Transcription Factors
K1 MESH: European Continental Ancestry Group
K1 MESH: Eye Proteins
K1 MESH: Female
K1 MESH: Fetus
K1 MESH: Genetic Association Studies
K1 MESH: Genetic Counseling
K1 MESH: Genetic Testing
K1 [SDV.BDD]Life Sciences [q-bio]/Development Biology
K1 [SDV.GEN]Life Sciences [q-bio]/Genetics
K1 [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
JF info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2011-100339
LK http://dx.doi.org/https://www.hal.inserm.fr/inserm-00626407
DO https://www.hal.inserm.fr/inserm-00626407
SF ELIB - SuUB Bremen

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