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PubPharm (220)
1
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Posset, R.
|
Garbade, S.
|
Gleich, F.
| +58
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2
Genetic landscape of pediatric acute liver failure of indeterminate origin
enthalten in:
Hepatology (Baltimore, Md.)
| 2024
von
Lenz, D.
|
Schlieben, L.
|
Shimura, M.
| +92
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3
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
enthalten in:
Molecular genetics and metabolism
| 2024
von
Hammann, N.
|
Lenz, D.
|
Baric, I.
| +32
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4
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Brunet, T.
|
Zott, B.
|
Lieftüchter, V.
| +46
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5
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
enthalten in:
Frontiers in genetics
| 2024
von
Panis, B.
|
Vos, E.
|
Barić, I.
| +32
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6
GPI-anchoring disorders and the heart : Is cardiomyopathy an overlooked feature?
enthalten in:
Clinical genetics
| 2023
von
Bayat, A.
|
Lindau, T.
|
Aledo-Serrano, A.
| +11
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7
Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes
enthalten in:
bioRxiv.org
| 2023
von
Stenton, S.
|
Shimura, M.
|
Piekutowska-Abramczuk, D.
| +65
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8
Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome
enthalten in:
ResearchSquare.com
| 2023
von
Roesch, S.
|
O´Sullivan, A.
|
Tschani, S.
| +26
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9
Succinic semialdehyde dehydrogenase deficiency in mice and in humans : An untargeted metabolomics perspective
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Peters, T.
|
Engelke, U.
|
de Boer, S.
| +16
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10
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
enthalten in:
Human genetics
| 2023
von
D'Onofrio, G.
|
Accogli, A.
|
Severino, M.
| +47
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Journal of inherited metabolic disease
11
Molecular genetics and metabolism
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Human mutation
8
Orphanet journal of rare diseases
8
The journal of pediatric endocrinology and meta...
6
European journal of pediatrics
6
Lijecnicki vjesnik
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American journal of human genetics
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Genetics in medicine : official journal of the ...
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Journal of Inherited Metabolic Disease
5
Journal of clinical immunology
4
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3
Annals of neurology
3
Biochimica et biophysica acta
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Collegium antropologicum
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European journal of human genetics : EJHG
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Human genetics
3
Journal of pediatric gastroenterology and nutri...
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Nature genetics
2
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10
AdoMet
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Newborn Screening
9
Research Support, N.I.H., Extramural
9
Urea Cycle Disorder
8
Adenosylhomocysteinase
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EC 3.3.1.1
7
Homocysteine
7
Multicenter Study
6
Published Erratum
5
AE28F7PNPL
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Biomarkers
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Methionine
5
Methionine Adenosyltransferase
4
0LVT1QZ0BA
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B cell deficiency
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Carrier Proteins
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