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1 Ergebnisse
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Phenotype expansion of heterozygous FOXC1 pathogenic varian..:
Wu, Chen-Han Wilfred
;
Mann, Nina
;
Nakayama, Makiko
...
Genetics in Medicine. 22 (2020) 10 - p. 1673-1681 , 2020
Link:
https://doi.org/10.1038/s41436-020-0844-z
RT Journal T1
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41436-020-0844-z&Exemplar=1&LAN=DE A1 Wu, Chen-Han Wilfred A1 Mann, Nina A1 Nakayama, Makiko A1 Connaughton, Dervla M. A1 Dai, Rufeng A1 Kolvenbach, Caroline M. A1 Kause, Franziska A1 Ottlewski, Isabel A1 Wang, Chunyan A1 Klämbt, Verena A1 Seltzsam, Steve A1 Lai, Ethan W. A1 Selvin, Aravind A1 Senguttuva, Prabha A1 Bodamer, Olaf A1 Stein, Deborah R. A1 El Desoky, Sherif A1 Kari, Jameela A. A1 Tasic, Velibor A1 Bauer, Stuart B. A1 Shril, Shirlee A1 Hildebrandt, Friedhelm PB Elsevier BV YR 2020 SN 1098-3600 JF Genetics in Medicine VO 22 IS 10 SP 1673 OP 1681 LK http://dx.doi.org/https://doi.org/10.1038/s41436-020-0844-z DO https://doi.org/10.1038/s41436-020-0844-z SF ELIB - SuUB Bremen
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