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1 Ergebnisse
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Novel biallelic variants expand the phenotype of NAA20‐rela..:
D'Onofrio, Gianluca
;
Cuccurullo, Claudia
;
Larsen, Silje Kathrine
...
Clinical Genetics. 104 (2023) 3 - p. 371-376 , 2023
Link:
https://doi.org/10.1111/cge.14359
RT Journal T1
Novel biallelic variants expand the phenotype of NAA20‐related syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.14359&Exemplar=1&LAN=DE A1 D'Onofrio, Gianluca A1 Cuccurullo, Claudia A1 Larsen, Silje Kathrine A1 Severino, Mariasavina A1 D'Amico, Alessandra A1 Brønstad, Kirsten A1 AlOwain, Mohammed A1 Morrison, Jennifer L. A1 Wheeler, Patricia G. A1 Webb, Bryn D. A1 Alfalah, Abdullah A1 Iacomino, Michele A1 Uva, Paolo A1 Coppola, Antonietta A1 Merla, Giuseppe A1 Salpietro, Vincenzo Damiano A1 Zara, Federico A1 Striano, Pasquale A1 Accogli, Andrea A1 Arnesen, Thomas A1 Bilo, Leonilda PB Wiley YR 2023 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 104 IS 3 SP 371 OP 376 LK http://dx.doi.org/https://doi.org/10.1111/cge.14359 DO https://doi.org/10.1111/cge.14359 SF ELIB - SuUB Bremen
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