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Journal Article
Moosa, Shahida 
ORCID: 0000-0002-4463-3067, Fano, Virginia, Obregon, Maria Gabriela, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Nishimura, Gen and Wollnik, Bernd
(2016).
A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival.
Am. J. Med. Genet. A, 170 (9).
S. 2436 - 2440.
HOBOKEN:
WILEY-BLACKWELL.
ISSN 1552-4833
Moosa, Shahida ORCID: 0000-0002-4463-3067, Obregon, Maria Gabriela, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Fano, Virginia and Wollnik, Bernd
(2016).
Novel IFT122 Mutations in Three Argentinian Patients with Cranioectodermal Dysplasia: Expanding the Mutational Spectrum.
Am. J. Med. Genet. A, 170 (5).
S. 1295 - 1302.
HOBOKEN:
WILEY.
ISSN 1552-4833