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Rust, Stephan
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1

Mitochondrial DNA mutations in Medulloblastoma:

Funke, Viktoria L. E ; Sandmann, Sarah ; Melcher, Viktoria...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10373251/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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2

Translational balancing questioned : Unaltered glycosylatio..:

Kemme, Lisa ; Grüneberg, Marianne ; Reunert, Janine...
JIMD Reports, 2192-8304, 2021, 60:1, s. 42-55.  , 2021
Link: http://urn.kb.se/resolve..
 
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3

Severe Form of ßIV-Spectrin Deficiency With Mitochondrial D..:

Belkheir, Aziza Miriam ; Reunert, Janine ; Elpers, Christiane...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110827/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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4

3-Hydroxyisobutyrate Dehydrogenase (HIBADH) deficiency - a ..:

Meyer, Melanie ; Hollenbeck, Jana C ; Reunert, Janine...
info:eu-repo/semantics/altIdentifier/doi/10.1002/jimd.12410.  , 2021
Link: https://pub.h-brs.de/fro..
 
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5

Translational balancing questioned: Unaltered glycosylation..:

Kemme, Lisa ; Grüneberg, Marianne ; Reunert, Janine...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260486/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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6

Uridine Treatment of the First Known Case of SLC25A36 Defic..:

Jasper, Luisa ; Scarcia, Pasquale ; Rust, Stephan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470663/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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7

Severe Form of ßIV-Spectrin Deficiency With Mitochondrial D..:

Belkheir, Aziza Miriam ; Reunert, Janine ; Elpers, Christiane...
vignette : https://noah.nrw/titlepage/urn/urn:nbn:de:hbz:6-12079556706/128.  , 2021
Link: https://nbn-resolving.or..
 
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8

Tubulin Folding Cofactor D Deficiency: Missing the Diagnosi..:

Quitmann, Christina M ; Rust, Stephan ; Reunert, Janine...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8370890/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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9

N-glycome analysis detects dysglycosylation missed by conve..:

Park, Julien H ; Mealer, Robert G ; Elias, Abdallah F...
Journal of Inherited Metabolic Disease, 0141-8955, 2020, 43:6, s. 1370-1381.  , 2020
Link: http://urn.kb.se/resolve..
 
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10

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate tra..:

Marquardt, Thorsten ; Bzduch, Vladimir ; Hogrebe, Max...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7451446/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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11

Association of Serotonin Transporter Gene AluJb Methylation..:

Schneider, Ilona ; Kugel, Harald ; Redlich, Ronny...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916353/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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12

Limitations of galactose therapy in phosphoglucomutase 1 de..:

Nolting, Kristine ; Park, Julien H ; Tegtmeyer, Laura C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540825/.  , 2017
Link: http://www.ncbi.nlm.nih...
 
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13

Limitations of galactose therapy in phosphoglucomutase 1 de..:

Nolting, Kristine ; Park, Julien H ; Tegtmeyer, Laura C...
boreal:227772.  , 2017
Link: http://hdl.handle.net/20..
 
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14

Limitations of galactose therapy in phosphoglucomutase 1 de..:

Nolting, Kristine ; Park, Julien H ; Tegtmeyer, Laura C...
boreal:227772.  , 2017
Link: http://hdl.handle.net/20..
 
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15

Limitations of galactose therapy in phosphoglucomutase 1 de..:

Nolting, Kristine ; Park, Julien Heinrich ; Park, Julien H...
vignette : https://noah.nrw/titlepage/urn/urn:nbn:de:hbz:6-06139584889/128.  , 2017
Link: https://nbn-resolving.or..
 
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