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Leon, Eyby
58
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Online (58)
Mediatypes
Articles (Online) (35)
OpenAccess-fulltext (23)
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1
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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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/..
?
3
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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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
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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8
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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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
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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11
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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12
Unique skeletal manifestations in patients with Primrose sy..:
Arora, Veronica
;
Leon, Eyby
;
Diaz, Jullianne
...
European Journal of Medical Genetics. 63 (2020) 8 - p. 103967 , 2020
Link:
https://doi.org/10.1016/..
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13
Evidence of GMPPA founder mutation in indigenous Guatemalan..:
Diaz, Jullianne
;
Kane, Timothy D.
;
Leon, Eyby
American Journal of Medical Genetics Part A. 182 (2020) 3 - p. 425-430 , 2020
Link:
https://doi.org/10.1002/..
?
14
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Synd..:
Alston, Charlotte L.
;
Veling, Mike T.
;
Heidler, Juliana
...
The American Journal of Human Genetics. 106 (2020) 1 - p. 92-101 , 2020
Link:
https://doi.org/10.1016/..
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15
Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodeve..:
Kang, Seok Kyu
;
Vanoye, Carlos G.
;
Misra, Sunita N.
...
Annals of Neurology. 86 (2019) 6 - p. 899-912 , 2019
Link:
https://doi.org/10.1002/..
1-15