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Blessing, Holger
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1

Human ultrarare genetic disorders of sulfur metabolism demo..:

Kožich, Viktor ; Schwahn, Bernd C ; Sokolová, Jitka...
Redox Biology.  58 (2022)  - p. 102517 , 2022
Link: https://doi.org/10.1016/..
 
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2

Clinical implementation of RNA sequencing for Mendelian dis..:

Yépez, Vicente A. ; Gusic, Mirjana ; Kopajtich, Robert...
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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3

Newborn screening and disease variants predict neurological..:

Mütze, Ulrike ; Henze, Lucy ; Gleich, Florian...
Journal of Inherited Metabolic Disease.  44 (2021)  4 - p. 857-870 , 2021
Link: https://doi.org/10.1002/..
 
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4

Diagnostic Challenges Using a 2-Tier Strategy for Methylmal..:

Weiss, Katharina J. ; Röschinger, Wulf ; Blessing, Holger...
Annals of Nutrition & Metabolism.  76 (2020)  4 - p. 268-276 , 2020
Link: https://www.jstor.org/st..
 
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5

Homozygous familial hypercholesterolemia with severe involv..:

Galiano, Matthias ; Hammersen, Johanna ; Sauerstein, Katja...
Journal of Clinical Apheresis.  35 (2020)  3 - p. 163-171 , 2020
Link: https://doi.org/10.1002/..
 
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6

Neonatal Cholestasis – Differential Diagnoses, Current Diag..:

Götze, Thomas ; Blessing, Holger ; Grillhösl, Christian..
Frontiers in Pediatrics.  3 (2015)  - p. , 2015
Link: https://doi.org/10.3389/..
 
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7

Effect of dietary regime on metabolic control in phenylketo..:

Rohde, Carmen ; Thiele, Alena Gerlinde ; Och, Ulrike...
Molecular Genetics and Metabolism Reports.  5 (2015)  - p. 36-41 , 2015
Link: https://doi.org/10.1016/..
 
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8

Human ultrarare genetic disorders of sulfur metabolism demo..:

Kožich, Viktor ; Schwahn, Bernd ; Sokolová, Jitka...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.redox.2022.102517.  , 2022
Link: https://hal.inrae.fr/hal..
 
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9

Clinical implementation of RNA sequencing for Mendelian dis..:

Yépez, Vicente A ; Gusic, Mirjana ; Ciara, Elżbieta...
info:eu-repo/semantics/altIdentifier/issn/1756-994X.  , 2022
Link: https://pub.dzne.de/reco..
 
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10

Human ultrarare genetic disorders of sulfur metabolism demo..:

Kožich, Viktor ; Schwahn, Bernd, C ; Sokolová, Jitka...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.redox.2022.102517.  , 2022
Link: https://hal.inrae.fr/hal..
 
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11

Clinical implementation of RNA sequencing for Mendelian dis..:

Yépez, Vicente A ; Gusic, Mirjana ; Kopajtich, Robert...
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/21652.  , 2022
Link: https://opus4.kobv.de/op..
 
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12

Human ultrarare genetic disorders of sulfur metabolism demo..:

Kožich, Viktor ; Schwahn, Bernd ; Sokolová, Jitka...
https://discovery.ucl.ac.uk/id/eprint/10158121/1/1-s2.0-S2213231722002890-main.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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13

Human ultrarare genetic disorders of sulfur metabolism demo..:

Kožich, Viktor ; Schwahn, Bernd C ; Sokolová, Jitka...
Redox Biology. -58 (2022), p.1-13. -Redox Biol. - 2213-2317.  , 2022
Link: https://hdl.handle.net/2..
 
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14

Human ultrarare genetic disorders of sulfur metabolism demo..:

Kožich, Viktor ; Schwahn, Bernd, C ; Sokolová, Jitka...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.redox.2022.102517.  , 2022
Link: https://hal.inrae.fr/hal..
 
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15

Clinical implementation of RNA sequencing for Mendelian dis..:

Yépez, Vicente A ; Gusic, Mirjana ; Kopajtich, Robert...
https://pure.au.dk/portal/da/publications/clinical-implementation-of-rna-sequencing-for-mendelian-disease-diagnostics(85d5c708-b25c-4428-aef1-cb0b6933320f).html.  , 2022
Link: https://pure.au.dk/porta..
 
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