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                             6 results found
no title author magazine year volume issue page(s) type
1 A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q Sirchia, Fabio
2017
60 4 p. 224-227
4 p.
article
2 A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins Hertecant, Jozef
2017
60 4 p. 212-216
5 p.
article
3 A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms Courtois, Audrey
2017
60 4 p. 228-231
4 p.
article
4 Attitudes toward prenatal genetic testing and therapeutic termination of pregnancy among parents of offspring with Prader-Willi syndrome Even-Zohar Gross, Noa
2017
60 4 p. 205-211
7 p.
article
5 Ocular dermoid in Pai Syndrome: A review Tormey, Peter
2017
60 4 p. 217-219
3 p.
article
6 Reassessment of the 12q15 deletion syndrome critical region Alesi, Viola
2017
60 4 p. 220-223
4 p.
article
                             6 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands