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Schlieben, Lea D.
31  Ergebnisse:
Personensuche X
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1

Machine Learning–Supported Diagnosis of Small Blue Round Ce..:

Schlieben, Lea D. ; Carta, Maria Giulia ; Moskalev, Evgeny A....
The Journal of Molecular Diagnostics.  26 (2024)  5 - p. 387-398 , 2024
Link: https://doi.org/10.1016/..
 
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2

Dystonia and mitochondrial disease: the movement disorder c..:

Indelicato, Elisabetta ; Schlieben, Lea D. ; Stenton, Sarah L....
Journal of Neurology.  , 2024
Link: https://doi.org/10.1007/..
 
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3

Distinct neonatal hyperammonemia and liver synthesis dysfun..:

Kirchberg, Ina ; Lainka, Elke ; Gangfuß, Andrea...
Frontiers in Pediatrics.  12 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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4

Disorders of vesicular trafficking presenting with recurren..:

Peters, Bianca ; Dattner, Tal ; Schlieben, Lea D....
Journal of Inherited Metabolic Disease.  , 2024
Link: https://doi.org/10.1002/..
 
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5

Impact of genetic and non-genetic factors on phenotypic div..:

Hammann, Nicole ; Lenz, Dominic ; Baric, Ivo...
Molecular Genetics and Metabolism.  141 (2024)  3 - p. 108118 , 2024
Link: https://doi.org/10.1016/..
 
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6

Genotypic and phenotypic spectrum of infantile liver failur..:

Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E....
Genetics in Medicine.  25 (2023)  6 - p. 100828 , 2023
Link: https://doi.org/10.1016/..
 
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7

Genetics of mitochondrial diseases: Current approaches for ..:

, In: Mitochondrial Diseases; Handbook of Clinical Neurology,
Schlieben, Lea D. ; Prokisch, Holger - p. 141-165 , 2023
Link: https://doi.org/10.1016/..
 
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8

Genotypic and phenotypic spectrum of infantile liver failur..:

Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E....
Genetics in Medicine.  25 (2023)  6 - p. 100314 , 2023
Link: https://doi.org/10.1016/..
 
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9

Genetic landscape of pediatric acute liver failure of indet..:

Lenz, Dominic ; Schlieben, Lea D. ; Shimura, Masaru...
Hepatology.  79 (2023)  5 - p. 1075-1087 , 2023
Link: https://doi.org/10.1097/..
 
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10

Guidelines for clinical interpretation of variant pathogeni..:

Smirnov, Dmitrii ; Schlieben, Lea D. ; Peymani, Fatemeh..
Human Mutation.  43 (2022)  8 - p. 1056-1070 , 2022
Link: https://doi.org/10.1002/..
 
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11

How Machine Learning and Statistical Models Advance Molecul..:

Schlieben, Lea D. ; Prokisch, Holger ; Yépez, Vicente A.
Frontiers in Molecular Biosciences.  8 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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12

The Dimensions of Primary Mitochondrial Disorders:

Schlieben, Lea D. ; Prokisch, Holger
Frontiers in Cell and Developmental Biology.  8 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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13

Deoxyguanosine kinase deficiency: natural history and liver..:

Manzoni, Eleonora ; Carli, Sara ; Gaignard, Pauline...
Brain Communications.  6 (2024)  3 - p. , 2024
Link: https://doi.org/10.1093/..
 
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14

Digenic Leigh syndrome on the background of the m.11778G>A ..:

Blickhäuser, Beryll ; Stenton, Sarah L ; Neuhofer, Christiane M...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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15

Population-based screening in children for early diagnosis ..:

Sanin, Veronika ; Schmieder, Raphael ; Ates, Sara...
Medizinische Genetik.  34 (2022)  1 - p. 41-51 , 2022
Link: https://doi.org/10.1515/..
 
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