E-LIB Suche - Ergebnisse für: Fagerberg, Christina

1

Reclassification of an FBN1 variant emphasizes the importan..:

Lildballe, Dorte L. ; Markholt, Sara ; Lyngholm, Christina Daugaard...
American Journal of Medical Genetics Part A. , 2024

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

2

Correction: Expansion of the neurodevelopmental phenotype o..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

3

Variants in the WDR44 WD40-repeat domain cause a spectrum o..:

Accogli, Andrea ; Shakya, Saurabh ; Yang, Taewoo...
Nature Communications. 15 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

4

Expansion of the neurodevelopmental phenotype of individual..:

Paulet, Alix ; Bennett-Ness, Cavan ; Ageorges, Faustine...
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

5

P428: De novo truncating variants in ZNF865: A putative cau..:

Bradbrook, Sam ; Graham, Gail ; Carter, Melissa...
Genetics in Medicine Open. 2 (2024) - p. 101322 , 2024

Link: https://doi.org/10.1016/..

6

A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Sig..:

Assing, Kristian ; Jørgensen, Sofie E. ; Sandgaard, Katrine S....
Journal of Clinical Immunology. 43 (2023) 8 - p. 1927-1940 , 2023

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

7

Comprehensive prenatal diagnostics: Exome versus genome seq..:

Miceikaite, Ieva ; Fagerberg, Christina ; Brasch‐Andersen, Charlotte...
Prenatal Diagnosis. 43 (2023) 9 - p. 1132-1141 , 2023

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

8

Expanding the genotype and phenotype spectrum of SYT1-assoc..:

Melland, Holly ; Bumbak, Fabian ; Kolesnik-Taylor, Anna...
Genetics in Medicine. 24 (2022) 4 - p. 880-893 , 2022

Link: https://doi.org/10.1016/..

9

Variants in ADD1 cause intellectual disability, corpus call..:

Qi, Cai ; Feng, Irena ; Costa, Ana Rita...
Genetics in Medicine. 24 (2022) 2 - p. 319-331 , 2022

Link: https://doi.org/10.1016/..

10

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopm..:

Nagy, Dóra ; Verheyen, Sarah ; Wigby, Kristen M....
Genes. 13 (2022) 1 - p. 154 , 2022

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

11

National data on the early clinical use of non‐invasive pre..:

Lund, Ida C. B. ; Petersen, Olav B. ; Becher, Naja H....
Acta Obstetricia et Gynecologica Scandinavica. 100 (2021) 5 - p. 884-892 , 2021

Link: https://doi.org/10.1111/..

12

Total number of reads affects the accuracy of fetal fractio..:

Miceikaitė, Ieva ; Brasch‐Andersen, Charlotte ; Fagerberg, Christina.
Molecular Genetics & Genomic Medicine. 9 (2021) 4 - p. , 2021

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

13

Trisomy 8 mosaicism in the placenta: A Danish cohort study ..:

Thomsen, Simon Horsholt ; Lund, Ida Charlotte Bay ; Fagerberg, Christina...
Prenatal Diagnosis. 41 (2020) 4 - p. 409-421 , 2020

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

14

Deletions and loss-of-function variants in TP63 associated ..:

Khandelwal, Kriti D. ; van den Boogaard, Marie-José H. ; Mehrem, Sarah L....
European Journal of Human Genetics. 27 (2019) 7 - p. 1101-1112 , 2019

Link: https://doi.org/10.1038/..

15

The ARID1B spectrum in 143 patients: from nonsyndromic inte..:

van der Sluijs, Pleuntje J. ; Jansen, Sandra ; Vergano, Samantha A....
Genetics in Medicine. 21 (2019) 6 - p. 1295-1307 , 2019

Link: https://doi.org/10.1038/..