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Nürnberg, Peter
1131  Ergebnisse:
Personensuche X
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1

Bi-allelic PRRT2 variants may predispose to Self-limited Fa..:

Koko, Mahmoud ; Elseed, Maha A. ; Mohammed, Inaam N....
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics.  111 (2024)  5 - p. 996 , 2024
Link: https://doi.org/10.1016/..
 
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3

Biallelic loss-of-function variants of ZFTRAF1 cause neurod..:

Asif, Maria ; Khayyat, Arwa Ishaq A. ; Alawbathani, Salem...
Genetics in Medicine.  26 (2024)  7 - p. 101143 , 2024
Link: https://doi.org/10.1016/..
 
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4

The MAPK/ERK signalling pathway: functional characterisatio..:

Hinterding, Helena Maria , 2023
Link: https://nbn-resolving.de..
 
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5

Elucidation of the Role of DNA-Damage Response Genes in the..:

Sackey, Benedict , 2023
Link: https://nbn-resolving.de..
 
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6

Genomic profiling in rare kidney disease:

Tschernoster, Nikolai , 2023
Link: https://nbn-resolving.de..
 
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7

CEP162 deficiency causes human retinal degeneration and rev..:

Nuzhat, Nafisa ; Van Schil, Kristof ; Liakopoulos, Sandra...
Journal of Clinical Investigation.  133 (2023)  8 - p. , 2023
Link: https://doi.org/10.1172/..
 
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8

Long-read sequencing identifies a common transposition hapl..:

Tschernoster, Nikolai ; Erger, Florian ; Kohl, Stefan...
Genome Medicine.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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9

Homozygous frameshift variant in desmoglein 2 gene causes b..:

Noor Ul Ayan, Hafiza ; Ali, Pir Sheeraz ; Korejo, Asad Aslam...
Clinical Genetics.  104 (2023)  2 - p. 266-268 , 2023
Link: https://doi.org/10.1111/..
 
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10

Congenital Microcephaly: A Debate on Diagnostic Challenges ..:

Asif, Maria ; Abdullah, Uzma ; Nürnberg, Peter..
Cells.  12 (2023)  4 - p. 642 , 2023
Link: https://doi.org/10.3390/..
 
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11

Biallelic MAD2L1BP (p31comet) mutation is associated with m..:

Abdel-Salam, Ghada M. H. ; Hellmuth, Susanne ; Gradhand, Elise...
JCI Insight.  8 (2023)  22 - p. , 2023
Link: https://doi.org/10.1172/..
 
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12

Deep histopathology genotype–phenotype analysis of focal co..:

Honke, Jonas ; Hoffmann, Lucas ; Coras, Roland...
Acta Neuropathologica Communications.  11 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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13

W100. ASSOCIATIONS OF SMOKING BEHAVIOR WITH POLYGENIC RISK ..:

Völker, Maja ; Foo, Jerome C. ; Streit, Fabian...
European Neuropsychopharmacology.  75 (2023)  - p. S157-S158 , 2023
Link: https://doi.org/10.1016/..
 
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14

S236: HIGH-BREADTH SEQUENCING OF CIRCULATING TUMOR DNA IDEN..:

Heger, Jan-Michel ; Mattlener, Julia ; Mammadova, Laman...
HemaSphere.  7 (2023)  S3 - p. e8618132 , 2023
Link: https://doi.org/10.1097/..
 
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15

Ganglioglioma with adverse clinical outcome and atypical hi..:

Hoffmann, Lucas ; Coras, Roland ; Kobow, Katja...
Acta Neuropathologica.  145 (2023)  6 - p. 815-827 , 2023
Link: https://doi.org/10.1007/..
 
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