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

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Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Moosa, ShahidaUNSPECIFIEDorcid.org/0000-0002-4463-3067UNSPECIFIED
Fano, VirginiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Obregon, Maria GabrielaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Altmueller, JanineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiele, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nishimura, GenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wollnik, BerndUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-263172
DOI: 10.1002/ajmg.a.37823
Journal or Publication Title: Am. J. Med. Genet. A
Volume: 170
Number: 9
Page Range: S. 2436 - 2440
Date: 2016
Publisher: WILEY-BLACKWELL
Place of Publication: HOBOKEN
ISSN: 1552-4833
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SKELETAL DYSPLASIAMultiple languages
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/26317

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