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Weniger Treffer
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- medicine.medical_specialty 15 Treffer
- internal medicine 14 Treffer
- child, preschool 12 Treffer
- male 11 Treffer
- child 10 Treffer
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45 weitere Werte:
- biology 9 Treffer
- female 9 Treffer
- genetics 9 Treffer
- business 8 Treffer
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- infant, newborn 8 Treffer
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- chemistry 6 Treffer
- medicine.symptom 6 Treffer
- molecular biology 6 Treffer
- pediatrics, perinatology and child health 6 Treffer
- adult 5 Treffer
- biology.protein 5 Treffer
- chemistry.chemical_compound 5 Treffer
- endocrinology, diabetes and metabolism 5 Treffer
- enzyme replacement therapy 5 Treffer
- adolescent 4 Treffer
- amino acid metabolism, inborn errors 4 Treffer
- article 4 Treffer
- gene 4 Treffer
- general medicine 4 Treffer
- genetics (clinical) 4 Treffer
- glycogen storage disease type ii 4 Treffer
- medicine.drug 4 Treffer
- mutation 4 Treffer
- neonatal screening 4 Treffer
- neurology (clinical) 4 Treffer
- pathology 4 Treffer
- young adult 4 Treffer
- 03 medical and health sciences 3 Treffer
- 0301 basic medicine 3 Treffer
- cardiomyopathy 3 Treffer
- disease 3 Treffer
- follow-up studies 3 Treffer
- glycogen storage disease 3 Treffer
- magnetic resonance imaging 3 Treffer
- medicine.anatomical_structure 3 Treffer
- newborn screening 3 Treffer
- syndrome 3 Treffer
- 030105 genetics & heredity 2 Treffer
- 0302 clinical medicine 2 Treffer
- 030217 neurology & neurosurgery 2 Treffer
- age of onset 2 Treffer
- aromatic l-amino acid decarboxylase 2 Treffer
- aromatic-l-amino-acid decarboxylases 2 Treffer
Verlag
Publikation
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18 Treffer
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Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypesIn: Molecular Genetics and Metabolism, Jg. 126 (2019), S. 53-63Online unknownZugriff:
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In: Molecular Genetics and Metabolism, Jg. 117 (2016-04-01), S. 431-437Online unknownZugriff:
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In: Molecular Genetics and Metabolism, Jg. 101 (2010-12-01), S. 324-331Online unknownZugriff:
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In: Pediatric Neurology, Jg. 39 (2008-11-01), S. 325-329Online unknownZugriff:
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In: European Journal of Pediatrics, Jg. 167 (2007-09-11), S. 941-944Online unknownZugriff:
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In: Pediatric Research, Jg. 60 (2006-09-01), S. 349-352Online unknownZugriff:
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In: Clinica chimica acta; international journal of clinical chemistry, Jg. 431 (2013-11-05)Online unknownZugriff:
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In: Brain and Development, Jg. 16 (1994-03-01), S. 126-131Online unknownZugriff:
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In: Journal of child neurology, Jg. 27 (2011-09-16), Heft 2Online unknownZugriff:
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In: Molecular genetics and metabolism, Jg. 101 (2010-05-25), Heft 2-3Online unknownZugriff:
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In: Pediatrics and neonatology, Jg. 49 (2008-12-06), Heft 4Online unknownZugriff:
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In: Journal of inherited metabolic disease, Jg. 29 (2005-10-05), Heft 4Online unknownZugriff:
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In: PLoS ONE, Jg. 8 (2013-08-14), S. e71900Online unknownZugriff:
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In: Human molecular genetics, Jg. 4 (1995-06-01), Heft 6Online unknownZugriff:
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In: Orphanet Journal of Rare Diseases, Jg. 11, Heft 1Online unknownZugriff: