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Recessive PRDM13 mutations cause fatal perinatal brainstem ..:

Coolen, Marion ; Altin, Nami ; Rajamani, Karthyayani...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.03.010. , 2022

Link: https://amu.hal.science/hal-03654319

RT Journal
T1 <Title>Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftsorbonneuniv:oai:HAL:hal-03654319v1&Exemplar=1&LAN=DE
				
A1 Coolen, Marion
A1 Altin, Nami
A1 Rajamani, Karthyayani
A1 Pereira, Eva
A1 Siquier-Pernet, Karine
A1 Puig Lombardi, Emilia
A1 Moreno, Nadjeda
A1 Barcia, Giulia
A1 Yvert, Marianne
A1 Laquerrière, Annie
A1 Pouliet, Aurore
A1 Nitschké, Patrick
A1 Boddaert, Nathalie
A1 Rausell, Antonio
A1 Razavi, Féréchté
A1 Afenjar, Alexandra
A1 Billette de Villemeur, Thierry
A1 Al-Maawali, Almundher
A1 Al-Thihli, Khalid
A1 Baptista, Julia
A1 Beleza-Meireles, Ana
A1 Garel, Catherine
A1 Legendre, Marine
A1 Gelot, Antoinette
A1 Burglen, Lydie
A1 Moutton, Sébastien
A1 Cantagrel, Vincent
PB HAL CCSD; Elsevier (Cell Press)
YR 2022
K1 [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.03.010
LK http://dx.doi.org/https://amu.hal.science/hal-03654319
DO https://amu.hal.science/hal-03654319
SF ELIB - SuUB Bremen

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