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Meitinger, Thomas
1320  Ergebnisse:
Personensuche X
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1

Identification of novel genetic variation causing epilepsy ..:

Schlögl, Monika Valeria , 2024
Link: http://nbn-resolving.de/..
 
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2

New Cases of Maleylacetoacetate Isomerase Deficiency with D..:

Gramer, Gwendolyn ; Wortmann, Saskia B. ; Fang-Hoffmann, Junmin...
International Journal of Neonatal Screening.  10 (2024)  1 - p. 17 , 2024
Link: https://doi.org/10.3390/..
 
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3

Bidirectional modulation of TCA cycle metabolites and anapl..:

Harada, Makoto ; Adam, Jonathan ; Covic, Marcela...
Cardiovascular Diabetology.  23 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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4

Pyruvat-Dehydrogenase-(PDHc)-Defizienz – genetische und kli..:

Klemm, Simone Kerstin , 2023
Link: http://nbn-resolving.de/..
 
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5

Molecular analysis of movement disorders - genomic and epig..:

Harrer, Philip Wolfgang , 2023
Link: http://nbn-resolving.de/..
 
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6

Exome sequencing in individuals with congenital anomalies o..:

Riedhammer, Korbinian M. ; Ćomić, Jasmina ; Tasic, Velibor...
European Journal of Human Genetics.  31 (2023)  6 - p. 674-680 , 2023
Link: https://doi.org/10.1038/..
 
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7

Circulating metabolites modulated by diet are associated wi..:

van der Spek, Ashley ; Stewart, Isobel D. ; Kühnel, Brigitte...
Molecular Psychiatry.  28 (2023)  9 - p. 3874-3887 , 2023
Link: https://doi.org/10.1038/..
 
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8

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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9

Exome sequencing in individuals with cardiovascular lateral..:

Breuer, Katinka ; Riedhammer, Korbinian M. ; Müller, Nicole...
European Journal of Human Genetics.  30 (2022)  8 - p. 946-954 , 2022
Link: https://doi.org/10.1038/..
 
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10

Author Correction: Genome-wide meta-analysis of phytosterol..:

Scholz, Markus ; Horn, Katrin ; Pott, Janne...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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11

The constitutional gain‐of‐function variant p.Glu1099Lys in..:

Popp, Bernt ; Brugger, Melanie ; Poschmann, Sibylle...
Clinical Genetics.  103 (2022)  2 - p. 226-230 , 2022
Link: https://doi.org/10.1111/..
 
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12

Clonal hematopoiesis as a pitfall in germline variant inter..:

Brunet, Theresa ; Berutti, Riccardo ; Dill, Veronika...
Human Molecular Genetics.  31 (2022)  14 - p. 2386-2395 , 2022
Link: https://doi.org/10.1093/..
 
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13

Renal X-inactivation in female individuals with X-linked Al..:

Günthner, Roman ; Knipping, Lea ; Jeruschke, Stefanie...
Frontiers in Medicine.  9 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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14

The multifaceted phenotypic and genotypic spectrum of type-..:

Ćomić, Jasmina ; Riedhammer, Korbinian M. ; Günthner, Roman...
Frontiers in Medicine.  9 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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15

Association of renin and aldosterone with glucose metabolis..:

Then, Cornelia ; Ritzel, Katrin ; Herder, Christian...
BMJ Open Diabetes Research & Care.  10 (2022)  1 - p. e002558 , 2022
Link: https://doi.org/10.1136/..
 
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