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Bodamer, Olaf A.
237
results:
Search for persons
X
Format
Online (237)
Mediatypes
Articles (Online) (146)
Bookchapter (Online) (2)
OpenAccess-fulltext (89)
Languages
english (221)
german (1)
Sorted by: Relevance
Sorted by: Year
?
1
P198: Insights into the cardiac phenotype in Kabuki syndrom:
Khalife, Leen
;
Formica, Natalie
;
Bodamer, Olaf
Genetics in Medicine Open. 2 (2024) - p. 101095 , 2024
Link:
https://doi.org/10.1016/..
?
2
KMT2D regulates activation, localization, and integrin expr..:
Potter, Sarah J.
;
Zhang, Li
;
Kotliar, Michael
...
Frontiers in Immunology. 15 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
?
3
Characterization of central manifestations in patients with..:
van Gool, Raquel
;
Golden, Emma
;
Goodlett, Benjamin
...
Genetics in Medicine. 26 (2024) 3 - p. 101053 , 2024
Link:
https://doi.org/10.1016/..
?
4
P893: Disparities in pediatric exome sequencing outcomes:
Omorodion, Jacklyn
;
Rashid, Asma
;
Bodamer, Olaf
.
Genetics in Medicine Open. 2 (2024) - p. 101807 , 2024
Link:
https://doi.org/10.1016/..
?
5
P239: Small molecule, high throughput drug discovery for Ka..:
Ma, Xiaoting
;
Hung, Christina
;
Bodamer, Olaf
Genetics in Medicine Open. 1 (2023) 1 - p. 100267 , 2023
Link:
https://doi.org/10.1016/..
?
6
Sengers syndrome and AGK-related disorders - Minireview of ..:
Wu, Chen-Han Wilfred
;
Caha, Martin
;
Smoot, Leslie
...
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107626 , 2023
Link:
https://doi.org/10.1016/..
?
7
Multidisciplinary clinical and translational approach for o..:
Khalife, Leen
;
Gottlieb, Rachel
;
Daly, Tara
...
Rare. 1 (2023) - p. 100008 , 2023
Link:
https://doi.org/10.1016/..
?
8
Characterizing the molecular impact of KMT2D variants on th..:
Jung, Youngsook L
;
Hung, Christina
;
Choi, Jaejoon
..
Human Molecular Genetics. 32 (2023) 13 - p. 2251-2261 , 2023
Link:
https://doi.org/10.1093/..
?
9
Unmet needs in countries participating in the undiagnosed d..:
Sciascia, Savino
;
Roccatello, Dario
;
Salvatore, Marco
...
Frontiers in Public Health. 11 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
10
Position paper of the undiagnosed diseases network internat..:
Gahl, William A.
;
Bodamer, Olaf
;
Cederroth, Helene
...
Rare. 1 (2023) - p. 100002 , 2023
Link:
https://doi.org/10.1016/..
?
11
O01: Outcomes of newborn screening for mucopolysaccharidosi..:
Siddharth, Aishwarya
;
Grassie, Christina
;
Michl, Emma
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100002 , 2023
Link:
https://doi.org/10.1016/..
?
12
Insights into the genotype–phenotype relationship of ocular..:
Shah, Suraj S.
;
Fulton, Anne
;
Jabroun, Mireille
...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1325-1338 , 2023
Link:
https://doi.org/10.1002/..
?
13
P028: Improved neurocognitive outcomes in neuronopathic muc..:
Michl, Emma
;
Goodlett, Benjamin
;
Duncan, Christine
.
Genetics in Medicine Open. 1 (2023) 1 - p. 100038 , 2023
Link:
https://doi.org/10.1016/..
?
14
P001: Single center experience with the Massachusetts State..:
Grassie, Christina
;
Siddharth, Aishwarya
;
Michl, Emma
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100011 , 2023
Link:
https://doi.org/10.1016/..
?
15
The Boston Children's Hospital (BCH) four year experience w..:
Al-Hertani, Walla
;
Peake, Roy
;
Sahai, Inderneel
.
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S17 , 2022
Link:
https://doi.org/10.1016/..
1-15