Found: 16
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Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 3, p. 296, doi. 10.1111/j.1399-0004.2010.01428.x
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- Publication type:
- Article
Insulin detemir compared with NPH insulin in children and adolescents with Type 1 diabetes.
- Published in:
- Diabetic Medicine, 2007, v. 24, n. 1, p. 27, doi. 10.1111/j.1464-5491.2007.02024.x
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- Publication type:
- Article
OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.
- Published in:
- World Journal of Pediatrics, 2011, v. 7, n. 3, p. 280, doi. 10.1007/s12519-011-0312-6
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- Article
Ceftriaxone associated urolithiasis in a child with hypercalciuria.
- Published in:
- 2011
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- Publication type:
- Case Study
RARE DISEASE IN SOUTH-EASTERN EUROPE, 15-17 NOVEMBER 2012, SKOPJE, REPUBLIC OF MACEDONIA.
- Published in:
- 2012
- By:
- Publication type:
- Proceeding
IDENTICAL MONOCHORIONIC TWINS WITH DOWN SYNDROME AND PATERNAL ORIGIN OF THE EXTRA CHROMOSOME 21.
- Published in:
- Contributions of Macedonian Academy of Sciences & Arts, 2012, v. 33, n. 2, p. 41
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- Publication type:
- Article
CHILDREN BORN SMALL FOR GESTATIONAL AGE (SGA).
- Published in:
- Contributions of Macedonian Academy of Sciences & Arts, 2012, v. 33, n. 2, p. 47
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- Publication type:
- Article
A GIANT OSTEOCHONDROMA IN A BOY WITH MULTIPLE EXOSTOSES.
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- Contributions of Macedonian Academy of Sciences & Arts, 2011, v. 32, n. 2, p. 317
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- Publication type:
- Article
ACUTE GALLBLADDER HYDROPS AND ARTHRITIS: UNUSUAL INITIAL MANIFESTATIONS OF WILSON'S DISEASE (WD).
- Published in:
- Contributions of Macedonian Academy of Sciences & Arts, 2011, v. 32, n. 2, p. 307
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- Publication type:
- Article
HUNTER SYNDROME (MUCCOPOLYSACCHARRIDOSIS TYPE II) IN MACEDONIA AND BULGARIA.
- Published in:
- Contributions of Macedonian Academy of Sciences & Arts, 2011, v. 32, n. 2, p. 187
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- Publication type:
- Article
EARLY-ONSET OCULAR OCHRONOSIS IN A GIRL WITH ALKAPTONURIA (AKU) AND A NOVEL MUTATION IN HOMOGENTISATE 1,2-DIOXYGENASE (HGD).
- Published in:
- 2011
- By:
- Publication type:
- Case Study
RARE DISEASES WITH RENAL INVOLVEMENT IN THE REPUBLIC OF MACEDONIA.
- Published in:
- Contributions of Macedonian Academy of Sciences & Arts, 2011, v. 32, n. 1, p. 55
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- Publication type:
- Article
ON RARE AND "SUPER-RARE" DISEASES: AN INSIGHT FROM THE REPUBLIC OF MACEDONIA.
- Published in:
- Contributions of Macedonian Academy of Sciences & Arts, 2011, v. 32, n. 1, p. 7
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- Publication type:
- Article
FOUR GENERATIONS IN A FAMILY WITH NEUROFIBROMATOSIS 1: PRECOCIOUS PUBERTY AND OPTIC NERVE TUMOR (OPT).
- Published in:
- 2010
- By:
- Publication type:
- Case Study
GROWTH HORMONE DEFICIENCY (GHD) AND SMALL FOR GESTATIONAL AGE (SGA): GENETIC ALTERATIONS.
- Published in:
- Contributions of Macedonian Academy of Sciences & Arts, 2009, v. 30, n. 2, p. 33
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- Publication type:
- Article
TYPE I GAUCHER DISEASE (GDI) IN THREE SIBLINGS: ENZYME REPLACEMENT TREATMENT (ERT) REQUIRED.
- Published in:
- Contributions of Macedonian Academy of Sciences & Arts, 2009, v. 30, n. 1, p. 233
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- Publication type:
- Article