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2019
Lahrouchi, Najim, George, Aman, Ratbi, Ilham, Schneider, Ronen, Elalaoui, Siham C., Moosa, Shahida 
ORCID: 0000-0002-4463-3067, Bharti, Sanita, Sharma, Ruchi, Abu-Asab, Mones, Onojafe, Felix, Adadi, Najlae, Lodder, Elisabeth M., Laarabi, Fatima-Zahra, Lamsyah, Yassine, Elorch, Hamza, Chebbar, Imane, Postma, Alex, V, Lougaris, Vassilios, Plebani, Alessandro, Altmueller, Janine, Kyrieleis, Henriette, Meiner, Vardiella, McNeill, Helen, Bharti, Kapil, Lyonnet, Stanislas, Wollnik, Bernd, Henrion-Caude, Alexandra, Berraho, Amina, Hildebrandt, Friedhelm, Bezzina, Connie R., Brooks, Brian P. and Sefiani, Abdelaziz
(2019).
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Nat. Commun., 10.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2041-1723
2018
Neirijnck, Yasmine ORCID: 0000-0001-7236-8451, Reginensi, Antoine, Renkema, Kirsten Y., Massa, Filippo, Kozlov, Vladimir M., Dhib, Haroun, Bongers, Ernie M. H. F., Feitz, Wout F., van Eerde, Albertien M. ORCID: 0000-0001-5953-5956, Lefebvre, Veronique, Knoers, Nine V. A. M., Tabatabaei, Mansoureh, Schulz, Herbert, McNeill, Helen ORCID: 0000-0003-1126-5154, Schaefer, Franz, Wegner, Michael, Sock, Elisabeth ORCID: 0000-0001-9925-3136 and Schedl, Andreas ORCID: 0000-0001-9380-7396
(2018).
Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int., 93 (5).
S. 1142 - 1154.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755