Biallelic variants in gle1 with survival beyond neonatal period

Authors :: Jamal Ghoumid
Sami Albaba
Martin Jakob Larsen
Maria Kibaek
Jens Michael Hertz
Thomas Smol
Philippe M. Campeau
Meena Balasubramanian
T. Michael Yates
University of Edinburgh
Université du Québec à Montréal = University of Québec in Montréal (UQAM)
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME)
Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)
Institute of Forensic Medicine [Odense]
University of Southern Denmark (SDU)
Sheffield Children's NHS Foundation Trust
Source :: Clinical Genetics, Clinical Genetics, 2020, Clinical Genetics, 98 (6), pp.622-625. ⟨10.1111/cge.13841⟩, Yates, T M, Campeau, P M, Ghoumid, J, Kibaek, M, Larsen, M J, Smol, T, Albaba, S, Hertz, J M & Balasubramanian, M 2020, ' Biallelic variants in GLE1 with survival beyond neonatal period ', Clinical Genetics, vol. 98, no. 6, pp. 622-625 . https://doi.org/10.1111/cge.13841
Publication Year :: 2020
Publisher :: HAL CCSD, 2020.
Abstract: International audience

Language :: English
ISSN :: 00099163 and 13990004
Database :: OpenAIRE
Journal :: Clinical Genetics, Clinical Genetics, 2020, Clinical Genetics, 98 (6), pp.622-625. ⟨10.1111/cge.13841⟩, Yates, T M, Campeau, P M, Ghoumid, J, Kibaek, M, Larsen, M J, Smol, T, Albaba, S, Hertz, J M & Balasubramanian, M 2020, ' Biallelic variants in GLE1 with survival beyond neonatal period ', Clinical Genetics, vol. 98, no. 6, pp. 622-625 . https://doi.org/10.1111/cge.13841
Accession number :: edsair.doi.dedup.....58e0e6b6141cce59168657d0728e9eb9
Full Text :: https://doi.org/10.1111/cge.13841⟩