I agree that this site is using cookies. You can find further informations here.
X
Hoffjan, Sabine
131  results:
Search for persons X
?
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/..
 
?
2

Einfluss des NFκB1-Promotorpolymorphismus (-94ins/delATTG) ..:

Vornweg, Svenja , 2023
Link: https://nbn-resolving.de..
 
?
3

Analyse der Exomsequenz von Kindern und Jugendlichen mit un..:

Köhne, Nora Laureen , 2023
Link: https://nbn-resolving.de..
 
?
4

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/..
 
?
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/..
 
?
6

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/..
 
?
7

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/..
 
?
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/..
 
?
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/..
 
?
10

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/..
 
?
11

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/..
 
?
12

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/..
 
?
13

Einzel-Nukleotid-Polymorphismen und ihre Kombinationen korr..:

Reiner, Franziska , 2020
Link: https://nbn-resolving.de..
 
?
14

Über das pränatale Screening auf fetale Aneuploidien mitt..:

Fotiadis-Schmitz, Andrea Maria , 2020
Link: https://nbn-resolving.de..
 
?
15

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/..
 
1-15