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2021
Khuller, Katharina, Yigit, Goekhan, Grijalva, Carolina Martinez, Altmueller, Janine, Thiele, Holger, Nurnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Koeninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd 
ORCID: 0000-0003-2589-0364 and Kuechler, Alma
(2021).
MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease.
Eur. J. Med. Genet., 64 (10).
AMSTERDAM:
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ISSN 1878-0849