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Boerkoel, Cornelius F.
248  Ergebnisse:
Personensuche X
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1

De novo GRIN variants in M3 helix associated with neurologi..:

Xu, Yuchen ; Song, Rui ; Perszyk, Riley E....
Cellular and Molecular Life Sciences.  81 (2024)  1 - p. , 2024
Link: https://doi.org/10.1007/..
 
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2

Naturally occurring splice variants dissect the functional ..:

Hejla, Duha ; Huynh, Stephanie ; Samra, Simran...
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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3

The practice of genomic medicine: A delineation of the proc..:

Handra, Julia ; Elbert, Adrienne ; Gazzaz, Nour...
Frontiers in Medicine.  9 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

Do PACS1 variants impeding adaptor protein binding predispo..:

Moller‐Hansen, Ashley ; Hejla, Duha ; Lee, Hyun Kyung...
American Journal of Medical Genetics Part A.  191 (2023)  8 - p. 2181-2187 , 2023
Link: https://doi.org/10.1002/..
 
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5

NOTCH1 loss of the TAD and PEST domain: An antimorph?:

Boerkoel, Pierre ; Huynh, Stephanie ; Yang, Gui Xiang...
American Journal of Medical Genetics Part A.  191 (2023)  6 - p. 1593-1598 , 2023
Link: https://doi.org/10.1002/..
 
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6

Generation of tandem alternative splice acceptor sites and ..:

Sage, Adam P. ; Lee, Hyun Kyung ; Dalmann, Joshua...
American Journal of Medical Genetics Part A.  191 (2023)  8 - p. 2219-2224 , 2023
Link: https://doi.org/10.1002/..
 
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7

Are CUL3 variants an underreported cause of congenital hear..:

Di Francesco, Daniela ; Swenerton, Anne ; Li, Wenhui Laura...
American Journal of Medical Genetics Part A.  191 (2023)  12 - p. 2903-2907 , 2023
Link: https://doi.org/10.1002/..
 
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8

Can leaky splicing and evasion of premature termination cod..:

Chin, Hui-Lin ; Lin, Susan ; Dalmann, Joshua...
European Journal of Medical Genetics.  65 (2022)  3 - p. 104427 , 2022
Link: https://doi.org/10.1016/..
 
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9

Impact of variation in practice in the prenatal reporting o..:

Cornthwaite, Melissa ; Turner, Kelly ; Armstrong, Linlea...
Prenatal Diagnosis.  42 (2022)  12 - p. 1514-1524 , 2022
Link: https://doi.org/10.1002/..
 
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10

Establishing analytical validity of BeadChip array genotype..:

Cherukuri, Praveen F. ; Soe, Melissa M. ; Condon, David E....
BMC Medical Genomics.  15 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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11

Long‐read genome sequencing resolves a complex 13q structur..:

Boerkoel, Pierre K. ; Dixon, Katherine ; Fitzsimons, Carrie...
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1589-1594 , 2022
Link: https://doi.org/10.1002/..
 
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12

The Clinical Variant Analysis Tool: Analyzing the evidence ..:

Chin, Hui-Lin ; Gazzaz, Nour ; Huynh, Stephanie...
Genetics in Medicine.  24 (2022)  7 - p. 1512-1522 , 2022
Link: https://doi.org/10.1016/..
 
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13

Can tandem alternative splicing and evasion of premature te..:

Gazzaz, Nour ; Frost, F. Graeme ; Alderman, Emily...
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 3089-3095 , 2022
Link: https://doi.org/10.1002/..
 
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14

An infant with congenital respiratory insufficiency and dia..:

Chin, Hui‐Lin ; Huynh, Stephanie ; Ashkani, Jahanshah...
American Journal of Medical Genetics Part A.  188 (2021)  3 - p. 926-930 , 2021
Link: https://doi.org/10.1002/..
 
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15

An approach to rapid characterization of DMD copy number va..:

Chin, Hui‐Lin ; O'Neill, Kieran ; Louie, Kristal...
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2541-2545 , 2021
Link: https://doi.org/10.1002/..
 
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