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Kopajtich, Robert
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1

Genome Aggregation Database Version 4—New Challenges of Var..:

Indelicato, Elisabetta ; Romito, Luigi Michele ; Harrer, Philip...
Movement Disorders.  39 (2024)  7 - p. 1237-1238 , 2024
Link: https://doi.org/10.1002/..
 
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2

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

Blickhäuser, Beryll ; Stenton, Sarah L ; Neuhofer, Christiane M...
Brain.  147 (2024)  6 - p. 1967-1974 , 2024
Link: https://doi.org/10.1093/..
 
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3

Bi-allelic variants in SNF8 cause a disease spectrum rangin..:

Brugger, Melanie ; Lauri, Antonella ; Zhen, Yan...
The American Journal of Human Genetics.  111 (2024)  3 - p. 594-613 , 2024
Link: https://doi.org/10.1016/..
 
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4

De novo variants in RNF213 are associated with a clinical s..:

Brunet, Theresa ; Zott, Benedikt ; Lieftüchter, Victoria...
Genetics in Medicine.  26 (2024)  2 - p. 101013 , 2024
Link: https://doi.org/10.1016/..
 
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5

ATP2B2 de novo variants as a cause of variable neurodevelop..:

Poggio, Elena ; Barazzuol, Lucia ; Salmaso, Andrea...
Genetics in Medicine.  25 (2023)  12 - p. 100971 , 2023
Link: https://doi.org/10.1016/..
 
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6

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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7

Expanding the phenotypic and biochemical spectrum of NDUFAF..:

van der Ven, Amelie T. ; Cabrera-Orefice, Alfredo ; Wente, Isabell...
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107675 , 2023
Link: https://doi.org/10.1016/..
 
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8

Investigating the role of ASCC1 in the causation of bone fr..:

Voraberger, Barbara ; Mayr, Johannes A. ; Fratzl-Zelman, Nadja...
Frontiers in Endocrinology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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9

Identification of molecular signatures and pathways involve..:

Pascual-Alonso, Ainhoa ; Xiol, Clara ; Smirnov, Dmitrii...
Human Genomics.  17 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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10

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of..:

Harrer, Philip ; Škorvánek, Matej ; Kittke, Volker...
Movement Disorders.  38 (2023)  10 - p. 1914-1924 , 2023
Link: https://doi.org/10.1002/..
 
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11

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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12

Neonatal lactic acidosis explained by LARS2 defect:

De Paepe, Boel ; Smet, Joél ; Kopajtich, Robert...
Pediatric Research.  93 (2022)  4 - p. 740-743 , 2022
Link: https://doi.org/10.1038/..
 
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13

Suleiman-El-Hattab syndrome: a histone modification disorde..:

Riedhammer, Korbinian M ; Burgemeister, Anna L ; Cantagrel, Vincent...
Human Molecular Genetics.  31 (2022)  18 - p. 3083-3094 , 2022
Link: https://doi.org/10.1093/..
 
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14

Protonation-Dependent Sequencing of 5-Formylcytidine in RNA:

Link, Courtney N. ; Thalalla Gamage, Supuni ; Gallimore, Diamond...
Biochemistry.  61 (2022)  7 - p. 535-544 , 2022
Link: https://doi.org/10.1021/..
 
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15

Protonation‐Dependent Sequencing of 5‐Formylcytidine in RNA:

Link, Courtney N. ; Thalalla Gamage, Supuni ; Gallimore, Diamond A....
The FASEB Journal.  36 (2022)  S1 - p. , 2022
Link: https://doi.org/10.1096/..
 
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