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Leon, Eyby
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1

P247: Expanded phenotype and pathogenesis of the novel TFE3..:

Keppler-Noreuil, Kim ; Luu, Sharon ; Furuya, Katryn..
Genetics in Medicine Open.  2 (2024)  - p. 101143 , 2024
Link: https://doi.org/10.1016/..
 
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2

Death associated with brain herniation in classical MSUD pa..:

Leon, Eyby ; Shur, Natasha ; Chapman, Kimberly...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108297 , 2024
Link: https://doi.org/10.1016/..
 
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3

P373: Third patient with biallelic variants in SMAD6 with a..:

Leon, Eyby
Genetics in Medicine Open.  2 (2024)  - p. 101267 , 2024
Link: https://doi.org/10.1016/..
 
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4

P227: De novo GATA4 deletion in a 46,XX boy with hypospadia..:

Leon, Eyby ; Gomez-Lobo, Veronica ; Shimy, Kim...
Genetics in Medicine Open.  1 (2023)  1 - p. 100255 , 2023
Link: https://doi.org/10.1016/..
 
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5

EARLY ONSET CLINICAL AND BIOCHEMICAL PHENOTYPE OF COBALAMIN..:

Leon, Eyby ; MacLeod, Erin ; Grant, Christina Lee..
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107444 , 2023
Link: https://doi.org/10.1016/..
 
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6

Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyrido..:

Fortin, Olivier ; Christoffel, Kelsey ; Kousa, Youssef...
Neurology.  101 (2023)  18 - p. , 2023
Link: https://doi.org/10.1212/..
 
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7

P227: De novo GATA4 deletion in a 46,XX boy with hypospadia..:

Eyby Leon ; Veronica Gomez-Lobo ; Kim Shimy...
http://www.sciencedirect.com/science/article/pii/S2949774423002558.  , 2023
Link: https://doi.org/10.1016/..
 
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8

ALDH1A2-related disorder: A new genetic syndrome due to alt..:

Leon, Eyby ; Nde, Claris ; Ray, Randall S..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9805811/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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9

Genomic and biochemical analysis of repeatedly observed var..:

Billington Jr, Charles J. ; Chapman, Kimberly A. ; Leon, Eyby...
American Journal of Medical Genetics Part A.  188 (2022)  9 - p. 2738-2749 , 2022
Link: https://doi.org/10.1002/..
 
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10

ALDH1A2‐related disorder: A new genetic syndrome due to alt..:

Leon, Eyby ; Nde, Claris ; Ray, Randall S...
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 90-99 , 2022
Link: https://doi.org/10.1002/..
 
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11

Domino liver transplantation: Expanding the liver donor poo..:

Ekong, Udeme D. ; Reddy, Sahithi ; Yazigi, Nada...
Liver Transplantation.  28 (2022)  12 - p. 1947-1950 , 2022
Link: https://doi.org/10.1002/..
 
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12

Pediatric medical genetics house call: Telemedicine for the..:

Cohen, Andrea J. ; Shur, Natasha ; Starin, Danielle...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  187 (2021)  1 - p. 55-63 , 2021
Link: https://doi.org/10.1002/..
 
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13

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neuro..:

Chai, Guoliang ; Webb, Alice ; Li, Chen...
Neuron.  109 (2021)  2 - p. 241-256.e9 , 2021
Link: https://doi.org/10.1016/..
 
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14

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neuro..:

Chai, Guoliang ; Webb, Alice ; Li, Chen...
qt6w53352f.  , 2021
Link: https://escholarship.org..
 
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15

Pure Distal 7q Duplication: Describing a Macrocephalic Neur..:

Bosfield, Kerri ; Diaz, Jullianne ; Leon, Eyby
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8215960/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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