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1 Ergebnisse
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Homozygous frameshift mutations in FAT1 cause a syndrome ch..:
Lahrouchi, Najim
;
George, Aman
;
Ratbi, Ilham
...
Nature Communications. 10 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1038/s41467-019-08547-w
RT Journal T1
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41467-019-08547-w&Exemplar=1&LAN=DE A1 Lahrouchi, Najim A1 George, Aman A1 Ratbi, Ilham A1 Schneider, Ronen A1 Elalaoui, Siham C. A1 Moosa, Shahida A1 Bharti, Sanita A1 Sharma, Ruchi A1 Abu-Asab, Mones A1 Onojafe, Felix A1 Adadi, Najlae A1 Lodder, Elisabeth M. A1 Laarabi, Fatima-Zahra A1 Lamsyah, Yassine A1 Elorch, Hamza A1 Chebbar, Imane A1 Postma, Alex V. A1 Lougaris, Vassilios A1 Plebani, Alessandro A1 Altmueller, Janine A1 Kyrieleis, Henriette A1 Meiner, Vardiella A1 McNeill, Helen A1 Bharti, Kapil A1 Lyonnet, Stanislas A1 Wollnik, Bernd A1 Henrion-Caude, Alexandra A1 Berraho, Amina A1 Hildebrandt, Friedhelm A1 Bezzina, Connie R. PB Springer Science and Business Media LLC YR 2019 SN 2041-1723 JF Nature Communications VO 10 IS 1 LK http://dx.doi.org/https://doi.org/10.1038/s41467-019-08547-w DO https://doi.org/10.1038/s41467-019-08547-w SF ELIB - SuUB Bremen
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