E-LIB Suche - Ergebnisse für: Benet‐Pagès, Anna

1

Critical assessment of secondary findings in genes linked t..:

Diebold, Isabel ; Schön, Ulrike ; Scharf, Florentine...
Human Mutation. 41 (2020) 5 - p. 1025-1032 , 2020

2

Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): C..:

Abicht, Angela ; Scharf, Florentine ; Kleinle, Stephanie...
Molecular Genetics & Genomic Medicine. 6 (2018) 6 - p. 1188-1198 , 2018

Link: https://doi.org/10.1002/..

3

Extending the critical regions for mutations in the non‐cod..:

Hallermayr, Ariane ; Graf, Janine ; Koehler, Udo...
Clinical Case Reports. 6 (2018) 11 - p. 2224-2228 , 2018

Link: https://doi.org/10.1002/..

4

Optical Genome Mapping as a Potential Routine Clinical Diag..:

Barseghyan, Hayk ; Eisenreich, Doris ; Lindt, Evgenia...
Genes. 15 (2024) 3 - p. 342 , 2024

Link: https://doi.org/10.3390/..

5

Quality assurance within the context of genome diagnostics ..:

Florian, Kraft ; Benet-Pagès, Anna ; Berner, Daniel...
Medizinische Genetik. 35 (2023) 2 - p. 91-104 , 2023

Link: https://doi.org/10.1515/..

6

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy b..:

Kleinle, Stephanie ; Scholz, Veronika ; Benet-Pagés, Anna...
Journal of Neuromuscular Diseases. 10 (2023) 5 - p. 835-846 , 2023

Link: https://doi.org/10.3233/..

7

The UCSC Genome Browser database: 2024 update:

Raney, Brian J ; Barber, Galt P ; Benet-Pagès, Anna...
Nucleic Acids Research. 52 (2023) D1 - p. D1082-D1088 , 2023

Link: https://doi.org/10.1093/..

8

The UCSC Genome Browser database: 2023 update:

Nassar, Luis R ; Barber, Galt P ; Benet-Pagès, Anna...
Nucleic Acids Research. 51 (2022) D1 - p. D1188-D1195 , 2022

Link: https://doi.org/10.1093/..

9

Somatic copy number alteration and fragmentation analysis i..:

Hallermayr, Ariane ; Wohlfrom, Tobias ; Steinke-Lange, Verena...
Journal of Hematology & Oncology. 15 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

10

Methylation of the 4q35 D4Z4 repeat defines disease status ..:

Erdmann, Hannes ; Scharf, Florentine ; Gehling, Stefanie...
Brain. 146 (2022) 4 - p. 1388-1402 , 2022

Link: https://doi.org/10.1093/..

11

The UCSC Genome Browser database: 2022 update:

Lee, Brian T ; Barber, Galt P ; Benet-Pagès, Anna...
Nucleic Acids Research. 50 (2021) D1 - p. D1115-D1122 , 2021

Link: https://doi.org/10.1093/..

12

HPO-driven virtual gene panel: a new efficient approach in ..:

Schön, Ulrike ; Holzer, Anna ; Laner, Andreas...
BMC Medical Genomics. 14 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

13

Liquid Biopsy Hotspot Variant Assays: Analytical Validation..:

Hallermayr, Ariane ; Benet-Pagès, Anna ; Steinke-Lange, Verena...
Clinical Chemistry. 67 (2021) 11 - p. 1483-1491 , 2021

Link: https://doi.org/10.1093/..

14

The UCSC Genome Browser database: 2021 update:

Navarro Gonzalez, Jairo ; Zweig, Ann S ; Speir, Matthew L...
Nucleic Acids Research. 49 (2020) D1 - p. D1046-D1057 , 2020

Link: https://doi.org/10.1093/..

15

Prevalence of CNV-neutral structural genomic rearrangements..:

Morak, Monika ; Steinke-Lange, Verena ; Massdorf, Trisari...
Familial Cancer. 19 (2020) 2 - p. 161-167 , 2020

Link: https://doi.org/10.1007/..