Found: 8
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Harlequin ichthyosis due to novel splice site mutation in the <italic>ABCA12</italic> gene: postnatal to prenatal diagnosis.
- Published in:
- International Journal of Dermatology, 2018, v. 57, n. 4, p. 428, doi. 10.1111/ijd.13923
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- Publication type:
- Article
Bloom syndrome: report of two cases in siblings.
- Published in:
- International Journal of Dermatology, 2013, v. 52, n. 8, p. 990, doi. 10.1111/j.1365-4632.2011.05385.x
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- Publication type:
- Article
Niemann-Pick Type C Disease.
- Published in:
- 2008
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- Publication type:
- Case Study
STUDY OF ANTICARDIOLIPIN ANTIBODIES IN REPEATED ABORTIONS - AN INSTITUTIONAL EXPERIENCE.
- Published in:
- Indian Journal of Pathology & Microbiology, 2001, v. 44, n. 2, p. 117
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- Publication type:
- Article
Does vitamin D play a significant role in type 2 diabetes?
- Published in:
- BMC Endocrine Disorders, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12902-015-0003-8
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- Publication type:
- Article
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
- Published in:
- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/428075
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- Publication type:
- Article
Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.
- Published in:
- 2002
- By:
- Publication type:
- journal article
A three way complex translocation (4; 9; 22) in two patients with chronic myelocytic leukemia.
- Published in:
- 2005
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- Publication type:
- journal article