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1 Ergebnisse
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Early prenatal diagnosis of causative homozygous variants i..:
Favier, Maud
;
Delanne, Julian
;
Gorincour, Guillaume
...
Prenatal Diagnosis. 44 (2024) 3 - p. 352-356 , 2024
Link:
https://doi.org/10.1002/pd.6519
RT Journal T1
Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_pd.6519&Exemplar=1&LAN=DE A1 Favier, Maud A1 Delanne, Julian A1 Gorincour, Guillaume A1 Faivre, Laurence A1 Racine, Caroline A1 Philippe, Christophe A1 Duffourd, Yannis A1 Vitobello, Antonio A1 Rousseau, Thierry A1 Martz, Olivia A1 Tarris, Georges A1 Oualiken, Camélia A1 Thauvin‐Robinet, Christel A1 Mau‐Them, Frédéric Tran PB Wiley YR 2024 SN 0197-3851 SN 1097-0223 JF Prenatal Diagnosis VO 44 IS 3 SP 352 OP 356 LK http://dx.doi.org/https://doi.org/10.1002/pd.6519 DO https://doi.org/10.1002/pd.6519 SF ELIB - SuUB Bremen
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