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1 Ergebnisse
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Undiagnosed rare disease clinic identifies a novel UBE3A va..:
Bruns, Rebecca
;
Liaqat, Khurram
;
Nasir, Abdul
...
Congenital Anomalies. 64 (2024) 3 - p. 155-160 , 2024
Link:
https://doi.org/10.1111/cga.12566
RT Journal T1
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cga.12566&Exemplar=1&LAN=DE A1 Bruns, Rebecca A1 Liaqat, Khurram A1 Nasir, Abdul A1 Treat, Kayla A1 Murthy, Vinaya S. A1 Mantcheva, Lili A1 Torres, Wilfredo A1 Conboy, Erin A1 Vetrini, Francesco PB Wiley YR 2024 SN 0914-3505 SN 1741-4520 JF Congenital Anomalies VO 64 IS 3 SP 155 OP 160 LK http://dx.doi.org/https://doi.org/10.1111/cga.12566 DO https://doi.org/10.1111/cga.12566 SF ELIB - SuUB Bremen
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