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Peart, LéShon
14  Ergebnisse:
Personensuche X
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1

SNUPN deficiency causes a recessive muscular dystrophy due ..:

Nashabat, Marwan ; Nabavizadeh, Nasrinsadat ; Saraçoğlu, Hilal Pırıl...
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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2

P254: Exome sequencing as a first-tier approach for rare fo..:

Smith, Carson ; Morel, Dayna ; Peart, LéShon..
Genetics in Medicine Open.  2 (2024)  - p. 101150 , 2024
Link: https://doi.org/10.1016/..
 
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3

Identification of novel MYH14 variants in families with aut..:

Duman, Duygu ; Ramzan, Memoona ; Subasioglu, Asli...
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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4

O23: Diagnostic success of genomic analyses in adults with ..:

Bivona, Stephanie ; Smith, Carson ; Bademci, Guney...
Genetics in Medicine Open.  2 (2024)  - p. 101018 , 2024
Link: https://doi.org/10.1016/..
 
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5

ADAMTSL2 mutations determine the phenotypic severity in Gel..:

Camarena, Vladimir ; Williams, Monique M. ; Morales, Alejo A....
JCI Insight.  , 2024
Link: https://doi.org/10.1172/..
 
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6

P136: Functional studies in ADAMTSL2-related geleophysic dy..:

Camarena, Vladimir ; Morales, Alejo ; Williams, Monique...
Genetics in Medicine Open.  1 (2023)  1 - p. 100165 , 2023
Link: https://doi.org/10.1016/..
 
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7

Dispersed DNA variants underlie hearing loss in South Flori..:

Peart, LéShon ; Gonzalez, Joanna ; Morel Swols, Dayna...
Human Genomics.  17 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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8

P642: Diagnostic yield of multi-omics approach in Undiagnos..:

Bademci, Guney ; Bivona, Stephanie ; Peart, LeShon...
Genetics in Medicine Open.  1 (2023)  1 - p. 100707 , 2023
Link: https://doi.org/10.1016/..
 
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9

P121: Comparison of diagnostic outcome amongst different et..:

Bivona, Stephanie ; Tekin, Mustafa ; Bademci, Guney...
Genetics in Medicine Open.  1 (2023)  1 - p. 100150 , 2023
Link: https://doi.org/10.1016/..
 
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10

H4C5 missense variant leads to a neurodevelopmental phenoty..:

Borja, Nicholas ; Borjas‐Mendoza, Paulo ; Bivona, Stephanie...
American Journal of Medical Genetics Part A.  191 (2023)  7 - p. 1911-1916 , 2023
Link: https://doi.org/10.1002/..
 
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11

Genome sequencing identifies coding and non-coding variants..:

Ramzan, Memoona ; Duman, Duygu ; Hendricks, LeShon Chere Peart...
Journal of Human Genetics.  68 (2023)  10 - p. 657-669 , 2023
Link: https://doi.org/10.1038/..
 
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12

P121: Comparison of diagnostic outcome amongst different et..:

Stephanie Bivona ; Mustafa Tekin ; Guney Bademci...
http://www.sciencedirect.com/science/article/pii/S2949774423001504.  , 2023
Link: https://doi.org/10.1016/..
 
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13

P642: Diagnostic yield of multi-omics approach in Undiagnos..:

Guney Bademci ; Stephanie Bivona ; LeShon Peart...
http://www.sciencedirect.com/science/article/pii/S2949774423007070.  , 2023
Link: https://doi.org/10.1016/..
 
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14

P136: Functional studies in ADAMTSL2-related geleophysic dy..:

Vladimir Camarena ; Alejo Morales ; Monique Williams...
http://www.sciencedirect.com/science/article/pii/S2949774423001656.  , 2023
Link: https://doi.org/10.1016/..
 
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