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Neurodevelopmental disorder in a patient with HMBS and SCN3..:
M, Kłaniewska
;
M, Rydzanicz
;
J, Bladowska
...
American Journal of Medical Genetics Part A. 194 (2024) 8 - p. , 2024
Link:
https://doi.org/10.1002/ajmg.a.63617
RT Journal T1 <Title>Neurodevelopmental disorder in a patient with HMBS and SCN3A variants—A possibly blended phenotype further delineating autosomal recessive HMBS related disease</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63617&Exemplar=1&LAN=DE A1 M, Kłaniewska A1 M, Rydzanicz A1 J, Bladowska A1 A, Borys ‐ Iwanicka A1 K, Iwanicka ‐ Pronicka A1 R, Wasilewski A1 E, Odnoczko A1 A, Zubkiewicz‐Kucharska A1 R, Smigiel A1 R, Ploski PB Wiley YR 2024 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 194 IS 8 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63617 DO https://doi.org/10.1002/ajmg.a.63617 SF ELIB - SuUB Bremen
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