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1 Ergebnisse
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Expanding the phenotype of the X-linked BCOR microphthalmia..:
Ragge, Nicola
;
Isidor, Bertrand
;
Bitoun, Pierre
...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-018-1896-x. , 2019
Link:
https://hal-univ-rennes1.archives-ouvertes.fr/hal-0186..
RT Journal T1
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
UL https://suche.suub.uni-bremen.de/peid=base-ftccsdartic:oai:HAL:hal-01863370v1&Exemplar=1&LAN=DE A1 Ragge, Nicola A1 Isidor, Bertrand A1 Bitoun, Pierre A1 Odent, Sylvie A1 Giurgea, Irina A1 Cogné, Benjamin A1 Deb, Wallid A1 Vincent, Marie A1 Le Gall, Jessica A1 Morton, Jenny A1 Lim, Derek A1 Le Meur, Guylène A1 Zazo Seco, Celia A1 Zafeiropoulou, Dimitra A1 Bax, Dorine A1 Zwijnenburg, Petra A1 Arteche, Anara A1 Swafiri, Saoud Tahsin A1 Cleaver, Ruth A1 McEntagart, Meriel A1 Kini, Usha A1 Newman, William A1 Ayuso, Carmen A1 Corton, Marta A1 Herenger, Yvan A1 Jeanne, Médéric A1 Calvas, Patrick A1 Chassaing, Nicolas PB HAL CCSD; Springer Verlag YR 2019 K1 MESH: Abnormalities K1 Multiple / genetics* K1 MESH: Adolescent K1 MESH: Proto-Oncogene Proteins / genetics K1 MESH: Repressor Proteins / genetics K1 MESH: Adult K1 MESH: Syndrome K1 MESH: X Chromosome Inactivation / genetics K1 MESH: Young Adult K1 MESH: Cataract / congenital K1 MESH: Cataract / genetics K1 MESH: Child K1 Preschool K1 MESH: Chromosomes K1 Human K1 X / genetics K1 MESH: Genetic Variation / genetics K1 MESH: Eye Abnormalities / genetics K1 MESH: Female K1 MESH: Genes K1 X-Linked / genetics K1 MESH: Heart Septal Defects / genetics K1 MESH: Heterozygote K1 MESH: Humans K1 MESH: Infant K1 MESH: Male K1 MESH: Microphthalmos / genetics K1 MESH: Phenotype K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics K1 [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs JF info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-018-1896-x LK http://dx.doi.org/https://hal-univ-rennes1.archives-ouvertes.fr/hal-01863370 DO https://hal-univ-rennes1.archives-ouvertes.fr/hal-01863370 SF ELIB - SuUB Bremen
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