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

1

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/..

2

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/..

3

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/..

4

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

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

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

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

A somatic splice‐site variant in PIK3R1 in a patient with v..:

Wilke, Matheus V. M. B. ; Schimmenti, Lisa ; Lopour, Madeline Q. R...
Molecular Genetics & Genomic Medicine. 11 (2023) 12 - p. , 2023

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

12

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/..

13

εγ-Thalassemia, a New Hemoglobinopathy Category:

Oliveira, Jennifer L ; Thompson, Christineil H ; Saravanaperumal, Siva Arumugam...
Clinical Chemistry. 69 (2023) 7 - p. 711-717 , 2023

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

14

Identification of AFG3L2 dominant optic atrophy following r..:

Brodsky, Michael C. ; Olson, Rory J. ; Asumda, Faizal Z....
American Journal of Ophthalmology Case Reports. 30 (2023) - p. 101825 , 2023

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

15

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/..