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Journal description
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6 results found
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title
author
magazine
year
volume
issue
page(s)
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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