E-LIB Suche - Ergebnisse für: Eyby Leon

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/..

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/..

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/..

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/..

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/..

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/..

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/..

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/..

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/..

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/..

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/..

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/..

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/..