E-LIB Suche - Ergebnisse für: Klee, Eric W.

1

The expanding clinical and genetic spectrum of DYNC1H1-rela..:

Möller, Birk ; Becker, Lena-Luise ; Saffari, Afshin...
Brain. , 2024

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

2

Semiautomated approach focused on new genomic information r..:

Ferrer, Alejandro ; Duffy, Patrick ; Olson, Rory J....
Human Genetics. 143 (2024) 5 - p. 649-666 , 2024

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

3

Complex balanced intrachromosomal rearrangement involving P..:

Farris, Joseph ; Khanna, Cheryl ; Smadbeck, James B....
American Journal of Medical Genetics Part A. 194 (2024) 5 - p. , 2024

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

4

Clonal dynamics of Richter transformation in chronic lympho..:

Wang, Hanyin ; Tian, Shulan ; Secreto, Charla R....
Hematological Oncology. 42 (2024) 4 - p. , 2024

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

5

Identification of skewed X chromosome inactivation using ex..:

Fadra, Numrah ; Schultz-Rogers, Laura E ; Chanana, Pritha...
BMC Genomics. 25 (2024) 1 - p. , 2024

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

6

Su1486 GERMLINE VARIANTS OF CANCER-PREDISPOSITION GENES IN ..:

Calderon, Gerardo ; Tian, Shulan ; Vairo, Filippo Pinto e...
Gastroenterology. 166 (2024) 5 - p. S-760 , 2024

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

7

Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregati..:

Wilke, Matheus V. M. B. ; Wick, Myra ; Schwab, Tanya L....
Genes. 15 (2024) 1 - p. 112 , 2024

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

8

Diagnostic yield of exome and genome sequencing after non-d..:

Wilke, Matheus V. M. B. ; Klee, Eric W. ; Dhamija, Radhika...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

9

Novel protein-truncating variants of a chromatin-modifying ..:

Lu, Xiaona ; Ng, Kim ; Pinto e Vairo, Filippo...
European Journal of Human Genetics. 32 (2024) 7 - p. 879-883 , 2024

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

10

Comment on Australian public perspectives on genomic data g..:

Houwink, Elisa J. F. ; Klee, Eric W.
European Journal of Human Genetics. , 2023

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

11

Impact of integrated translational research on clinical exo..:

Klee, Eric W. ; Cousin, Margot A. ; Pinto e Vairo, Filippo...
Genetics in Medicine. 25 (2023) 2 - p. 100359 , 2023

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

12

Bi-allelic variants in HMGCR cause an autosomal-recessive p..:

Morales-Rosado, Joel A. ; Schwab, Tanya L. ; Macklin-Mantia, Sarah K....
The American Journal of Human Genetics. 110 (2023) 6 - p. 989-997 , 2023

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

13

Enhancing Patient Care in Rare Genetic Diseases: An HPO-bas..:

, In: 2023 IEEE International Conference on Bioinformatics and Biomedicine (BIBM),

Xiao, Yao ; Enayati, Moein ; Schaeferle, Gavin M.... - p. 2754-2760 , 2023

Link: https://doi.org/10.1109/..

14

Further clinical and molecular characterization of an XLID ..:

Delanne, Julian ; Lecat, Magaly ; Blackburn, Patrick R....
European Journal of Medical Genetics. 66 (2023) 1 - p. 104670 , 2023

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

15

Genome-wide Analyses of Histone Modifications in the Mammal..:

, In: Handbook of Epigenetics,

Tian, Shulan ; Slager, Susan L. ; Klee, Eric W.. - p. 137-161 , 2023

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