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Hoffjan, Sabine
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1

Optical Genome Mapping Reveals Disruption of the RASGRF2 Ge..:

Lederbogen, Rosa Catalina ; Hoffjan, Sabine ; Thiels, Charlotte...
Genes.  15 (2024)  6 - p. 809 , 2024
Link: https://doi.org/10.3390/..
 
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2

Exome Sequencing and Optical Genome Mapping in Molecularly ..:

Erbe, Leoni S. ; Hoffjan, Sabine ; Janßen, Sören...
International Journal of Molecular Sciences.  24 (2023)  19 - p. 14716 , 2023
Link: https://doi.org/10.3390/..
 
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3

A 21-year-old woman with progressive asymptomatic skin laxi..:

Gambichler, Thilo ; Hoffjan, Sabine ; Nagel, Mato...
Clinical and Experimental Dermatology.  , 2023
Link: https://doi.org/10.1093/..
 
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4

Clustered variants in the 5′ coding region of TRA2B cause a..:

Ramond, Francis ; Dalgliesh, Caroline ; Grimmel, Mona...
Genetics in Medicine.  25 (2023)  4 - p. 100003 , 2023
Link: https://doi.org/10.1016/..
 
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5

Microscopic and Biochemical Hallmarks of BICD2-Associated M..:

Unger, Andreas ; Roos, Andreas ; Gangfuß, Andrea...
International Journal of Molecular Sciences.  24 (2023)  7 - p. 6808 , 2023
Link: https://doi.org/10.3390/..
 
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6

Cas9-Mediated Nanopore Sequencing Enables Precise Character..:

Skowronek, Dariush ; Pilz, Robin A. ; Bonde, Loisa...
International Journal of Molecular Sciences.  23 (2022)  24 - p. 15639 , 2022
Link: https://doi.org/10.3390/..
 
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7

Homozygous Inversion on Chromosome 13 Involving SGCG Detect..:

Pluta, Natalie ; Hoffjan, Sabine ; Zimmer, Frederic...
Genes.  13 (2022)  10 - p. 1752 , 2022
Link: https://doi.org/10.3390/..
 
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8

Canavan's spongiform leukodystrophy (Aspartoacylase deficie..:

Rossler, Leon ; Lemburg, Stefan ; Weitkämper, Almut...
Journal of Ultrasound.  26 (2022)  4 - p. 757-764 , 2022
Link: https://doi.org/10.1007/..
 
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9

SOX11 variants cause a neurodevelopmental disorder with inf..:

Al-Jawahiri, Reem ; Foroutan, Aidin ; Kerkhof, Jennifer...
Genetics in Medicine.  24 (2022)  6 - p. 1261-1273 , 2022
Link: https://doi.org/10.1016/..
 
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10

Phoenix from the ashes: dramatic improvement in severe late..:

Biesalski, Anne-Sophie ; Hoffjan, Sabine ; Schneider, Ruth...
Journal of Neurology.  269 (2021)  4 - p. 2206-2209 , 2021
Link: https://doi.org/10.1007/..
 
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11

Association between shorter leukocyte telomeres and multipl..:

Habib, Raneem ; Ocklenburg, Sebastian ; Hoffjan, Sabine...
Journal of Neuroimmunology.  341 (2020)  - p. 577187 , 2020
Link: https://doi.org/10.1016/..
 
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12

The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 D..:

Gómez-Fernández, Paloma ; Lopez de Lapuente Portilla, Aitzkoa ; Astobiza, Ianire...
Cells.  9 (2020)  1 - p. 175 , 2020
Link: https://doi.org/10.3390/..
 
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13

SI: Next-generation sequencing in human molecular genetic d..:

Hoffjan, Sabine
Molecular and Cellular Probes.  45 (2019)  - p. 69 , 2019
Link: https://doi.org/10.1016/..
 
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14

Evaluation of variation in genes of the arylhydrocarbon rec..:

Zorlu, Narin ; Hoffjan, Sabine ; Haghikia, Aiden..
Journal of Neuroimmunology.  334 (2019)  - p. 576979 , 2019
Link: https://doi.org/10.1016/..
 
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15

Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 r..:

Aydin, Gülsah ; Dekomien, Gabriele ; Hoffjan, Sabine...
BMC Neurology.  18 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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