Found: 8
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Carbohydrate-deficient glycoprotein syndrome 1b: A new answer to an old diagnostic dilemma.
- Published in:
- Journal of Paediatrics & Child Health, 2001, v. 37, n. 5, p. 510, doi. 10.1046/j.1440-1754.2001.00671.x
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- Publication type:
- Article
Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 12, p. 1023, doi. 10.1002/pd.731
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- Publication type:
- Article
Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency.
- Published in:
- 2002
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- Publication type:
- journal article
Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, p. 221, doi. 10.1007/s10545-009-1173-1
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- Publication type:
- Article
Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, p. 41, doi. 10.1007/s10545-009-1031-1
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- Publication type:
- Article
Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, p. 241, doi. 10.1007/s10545-009-1180-2
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- Publication type:
- Article
Non‐Tidal Ocean Loading Signals of the North and Baltic Sea From Terrestrial Gravimetry, GNSS, and High‐Resolution Modeling.
- Published in:
- Geophysical Research Letters, 2024, v. 51, n. 13, p. 1, doi. 10.1029/2024GL109262
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- Publication type:
- Article
An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 4, p. 372, doi. 10.1111/j.1399-0004.2009.01214.x
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- Publication type:
- Article