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1 Ergebnisse
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Exome sequencing identifies a likely causative variant in 5..:
Deutsch, Konstantin
;
Klämbt, Verena
;
Kitzler, Thomas M.
...
Genes & Diseases. 11 (2024) 5 - p. 101111 , 2024
Link:
https://doi.org/10.1016/j.gendis.2023.101111
RT Journal T1
Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gendis.2023.101111&Exemplar=1&LAN=DE A1 Deutsch, Konstantin A1 Klämbt, Verena A1 Kitzler, Thomas M. A1 Jobst-Schwan, Tilman A1 Schneider, Ronen A1 Buerger, Florian A1 Seltzsam, Steve A1 El Desoky, Sherif A1 Kari, Jameela A. A1 Hafeez, Farkhanda A1 Szczepańska, Maria A1 Eid, Loai A. A1 Awad, Hazem S. A1 Al-Saffar, Muna A1 Soliman, Neveen A. A1 Tasic, Velibor A1 Nicolas-Frank, Camille A1 Yousef, Kirollos A1 Schierbaum, Luca M. A1 Schneider, Sophia A1 Halawi, Abdul A1 Elmubarak, Izzeldin A1 Lemberg, Katharina A1 Shril, Shirlee A1 Mane, Shrikant M. A1 Rodig, Nancy A1 Hildebrandt, Friedhelm PB Elsevier BV YR 2024 SN 2352-3042 JF Genes & Diseases VO 11 IS 5 SP 101111 LK http://dx.doi.org/https://doi.org/10.1016/j.gendis.2023.101111 DO https://doi.org/10.1016/j.gendis.2023.101111 SF ELIB - SuUB Bremen
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