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Bodamer, Olaf A.
237  results:
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1

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/..
 
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2

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/..
 
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3

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/..
 
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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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

Assessment of Glucocerebrosidase Enzyme Activity in Parkins..:

Ortega, Roberto A. ; Bodamer, Olaf ; Peake, Roy W.A....
Movement Disorders.  37 (2022)  3 - p. 655-656 , 2022
Link: https://doi.org/10.1002/..
 
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