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2016
Angius, Andrea 
ORCID: 0000-0003-2596-6461, Uva, Paolo ORCID: 0000-0002-9524-8492, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana ORCID: 0000-0001-9946-1509, Loi, Angela, Marcia, Loredana, Hoehne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara ORCID: 0000-0002-7321-2384, Atalay, Hatice Tuba ORCID: 0000-0002-1847-615X, Inan, Sibel, El Assy, Osama, Smit, Leo M. E., Okur, Ilyas, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Utine, Gulen Eda, Kilic, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura ORCID: 0000-0001-9128-8537 and Rutsch, Frank
(2016).
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Am. J. Hum. Genet., 99 (1).
S. 236 - 246.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2015
Kilic, Esra, Yigit, Goekhan, Utine, Gulen Eda, Wollnik, Bernd, Mihci, Ercan, Nur, Banu Guzel and Boduroglu, Koray ORCID: 0000-0001-6260-1942
(2015).
A Novel Mutation in RNU4ATAC in a Patient with Microcephalic Osteodysplastic Primordial Dwarfism Type I.
Am. J. Med. Genet. A, 167 (4).
S. 919 - 922.
HOBOKEN:
WILEY-BLACKWELL.
ISSN 1552-4833
Kilic, Esra, Yigit, Goekhan, Utine, Gulen Eda, Wollnik, Bernd, Mihci, Ercan, Nur, Banu Guzel and Boduroglu, Koray ORCID: 0000-0001-6260-1942
(2015).
A Novel Mutation in RNU4ATAC in a Patient with Microcephalic Osteodysplastic Primordial Dwarfism Type I.
Am. J. Med. Genet. A, 167 (4).
S. 919 - 922.
HOBOKEN:
WILEY-BLACKWELL.
ISSN 1552-4833
2011
Li, Yun, Boegershausen, Nina, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kiper, Pelin Ozlem Simsek, Plume, Nadine, Keupp, Katharina, Pohl, Esther, Pawlik, Barbara, Rachwalski, Martin, Milz, Esther, Thoenes, Michaela, Albrecht, Beate, Prott, Eva-Christina, Lehmkuehler, Margret, Demuth, Stephanie, Utine, Gulen Eda, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Frankenbusch, Katja, Borck, Guntram, Gillessen-Kaesbach, Gabriele, Yigit, Gokhan, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492 and Wollnik, Bernd
(2011).
A mutation screen in patients with Kabuki syndrome.
Hum. Genet., 130 (6).
S. 715 - 725.
NEW YORK:
SPRINGER.
ISSN 0340-6717