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New insights into CC2D2A -related Joubert syndrome:

Harion, Madeleine ; Qebibo, Leila ; Riquet, Audrey...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmg-2022-108754. , 2022

Link: https://hal.science/hal-03837222

RT Journal
T1 <Title>New insights into CC2D2A -related Joubert syndrome</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftunivparis:oai:HAL:hal-03837222v1&Exemplar=1&LAN=DE
				
A1 Harion, Madeleine
A1 Qebibo, Leila
A1 Riquet, Audrey
A1 Rougeot, Christelle
A1 Afenjar, Alexandra
A1 Garel, Catherine
A1 Louha, Malek
A1 Lacaze, Emmanuelle
A1 Audic-Gérard, Frédérique
A1 Barth, Magali
A1 Berquin, Patrick
A1 Bonneau, Dominique
A1 Bourdain, Frédéric
A1 Busa, Tiffany
A1 Colin, Estelle
A1 Cuisset, Jean-Marie
A1 Des Portes, Vincent
A1 Dorison, Nathalie
A1 Francannet, Christine
A1 Héron, Bénédicte
A1 Laroche, Cécile
A1 Lebrun, Marine
A1 Métreau, Julia
A1 Odent, Sylvie
A1 Pasquier, Laurent
A1 Trujillo, Yaumara Perdomo
A1 Perrin, Laurine
A1 Pinson, Lucile
A1 Rivier, Francois
A1 Sigaudy, Sabine
A1 Thauvin-Robinet, Christel
A1 Louvier, Ulrike Walther
A1 Labayle, Olivier
A1 Rodriguez, Diana
A1 Valence, Stéphanie
A1 Burglen, Lydie
PB HAL CCSD; BMJ Publishing Group
YR 2022
K1 Cerebellar diseases
K1 Genetic testing
K1 Genotype
K1 Nervous system malformations
K1 Phenotype
K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
K1 [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics
JF info:eu-repo/semantics/altIdentifier/doi/10.1136/jmg-2022-108754
LK http://dx.doi.org/https://hal.science/hal-03837222
DO https://hal.science/hal-03837222
SF ELIB - SuUB Bremen

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