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McBride, Kim L
642  Ergebnisse:
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1

Bicuspid Aortic Valve Disease with Early-Onset Complication..:

Selbst, Maximilian A. ; Ward, Colin R. ; Svetgoff, Megan L....
Hearts.  5 (2024)  3 - p. 253-258 , 2024
Link: https://doi.org/10.3390/..
 
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2

Bi-allelic variants in CELSR3 are implicated in central ner..:

Stegmann, Jil D. ; Kalanithy, Jeshurun C. ; Dworschak, Gabriel C....
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

O07: Haploinsufficiency of EIF3A and EIF3B cause a clinical..:

Somerville, Cherith ; Erkut, Ersa ; Schwartz, Marci...
Genetics in Medicine Open.  2 (2024)  - p. 101469 , 2024
Link: https://doi.org/10.1016/..
 
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4

Clinical exome sequencing efficacy and phenotypic expansion..:

Huth, Emily A. ; Zhao, Xiaonan ; Owen, Nichole...
European Journal of Human Genetics.  31 (2023)  12 - p. 1430-1439 , 2023
Link: https://doi.org/10.1038/..
 
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5

A Multicenter Analysis of Abnormal Chromosomal Microarray F..:

Landis, Benjamin J. ; Helvaty, Lindsey R. ; Geddes, Gabrielle C....
Journal of the American Heart Association.  12 (2023)  18 - p. , 2023
Link: https://doi.org/10.1161/..
 
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6

Promising AAV.U7snRNAs vectors targeting DMPK improve DM1 h..:

Almeida, Camila F. ; Robriquet, Florence ; Vetter, Tatyana A....
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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7

Rare variants in CAPN2 increase risk for isolated hypoplast..:

Blue, Elizabeth E. ; White, Janson J. ; Dush, Michael K....
Human Genetics and Genomics Advances.  4 (2023)  4 - p. 100232 , 2023
Link: https://doi.org/10.1016/..
 
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8

A multicenter cross-sectional study in infants with congeni..:

Durbin, Matthew D. ; Helvaty, Lindsey R. ; Li, Ming...
Genetics in Medicine Open.  1 (2023)  1 - p. 100814 , 2023
Link: https://doi.org/10.1016/..
 
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9

Interim results of Transpher A, a multicenter, single-dose ..:

Flanigan, Kevin M. ; Smith, Nicholas ; Couce, Maria Luz...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107101 , 2023
Link: https://doi.org/10.1016/..
 
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10

Novel pathogenic GATA6 variant associated with congenital h..:

Yasuhara, Jun ; Manivannan, Sathiya N. ; Majumdar, Uddalak...
Pediatric Research.  95 (2023)  1 - p. 146-155 , 2023
Link: https://doi.org/10.1038/..
 
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11

Use of Elamipretide in patients assigned treatment in the c..:

Koenig, Mary Kay ; Russo, Sam Nick ; McBride, Kim L....
JIMD Reports.  64 (2022)  1 - p. 65-70 , 2022
Link: https://doi.org/10.1002/..
 
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12

Interim results of Transpher A, a multicentre, single-dose,..:

Flanigan, Kevin M. ; Smith, Nicholas J.N. ; Couce, Maria L....
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S43 , 2022
Link: https://doi.org/10.1016/..
 
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13

Exome sequencing in multiplex families with left-sided card..:

Gordon, David M. ; Cunningham, David ; Zender, Gloria...
PLOS Genetics.  18 (2022)  6 - p. e1010236 , 2022
Link: https://doi.org/10.1371/..
 
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14

A Decade's Experience in Pediatric Chromosomal Microarray R..:

Mathew, Mariam T. ; Antoniou, Austin ; Ramesh, Naveen...
The Journal of Molecular Diagnostics.  24 (2022)  9 - p. 1031-1040 , 2022
Link: https://doi.org/10.1016/..
 
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15

Characterization of an iPSC line NCHi006-A from a patient w..:

Alonzo, Matthew ; Contreras, Javier ; Ye, Shiqiao...
Stem Cell Research.  64 (2022)  - p. 102892 , 2022
Link: https://doi.org/10.1016/..
 
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