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1 Ergebnisse
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Pathogenic variants inKPTN, a rare cause of macrocephaly an..:
Pacio Miguez, Marta
;
Santos‐Simarro, Fernando
;
García‐Miñaúr, Sixto
...
American Journal of Medical Genetics Part A. 182 (2020) 10 - p. 2222-2225 , 2020
Link:
https://doi.org/10.1002/ajmg.a.61778
RT Journal T1
Pathogenic variants inKPTN, a rare cause of macrocephaly and intellectual disability
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.61778&Exemplar=1&LAN=DE A1 Pacio Miguez, Marta A1 Santos‐Simarro, Fernando A1 García‐Miñaúr, Sixto A1 Velázquez Fragua, Ramón A1 Pozo, Ángela A1 Solís, Mario A1 Jiménez Rodríguez, Carmen A1 Rufo‐Rabadán, Virginia A1 Fernandez, Victoria Eugenia A1 Rueda, Inmaculada A1 Gomez del Pozo, Maria Victoria A1 Gallego, Natividad A1 Lapunzina, Pablo A1 Palomares‐Bralo, María PB Wiley YR 2020 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 182 IS 10 SP 2222 OP 2225 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.61778 DO https://doi.org/10.1002/ajmg.a.61778 SF ELIB - SuUB Bremen
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