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Leon, Eyby
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1

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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2

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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3

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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4

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Synd..:

Alston, Charlotte L ; Veling, Mike T ; Heidler, Juliana...
https://mediatum.ub.tum.de/1554243.  , 2020
Link: https://mediatum.ub.tum...
 
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5

Unique skeletal manifestations in patients with Primrose sy..:

Arora, Veronica ; Leon, Eyby ; Diaz, Jullianne...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9445699/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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6

Extending the phenotypic spectrum of Bohring-Opitz syndrome..:

Leon, Eyby ; Diaz, Jullianne ; Castilla-Vallmanya, Laura...
Versió postprint del document publicat a: https://doi.org/10.1002/ajmg.a.61397.  , 2020
Link: http://hdl.handle.net/24..
 
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7

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Synd..:

Alston, Charlotte L ; Veling, Mike T ; Heidler, Juliana...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042492/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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8

Cornelia de Lange syndrome in diverse populations:

Dowsett, Leah ; Porras, Antonio R ; Kruszka, Paul...
qt6w35196f.  , 2019
Link: https://escholarship.org..
 
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9

Missense variants in TAF1 and developmental phenotypes: Cha..:

Cheng, Hanyin ; Capponi, Simona ; Wakeling, Emma...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187541/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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10

Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh synd..:

Alston, Charlotte L ; Veling, Mike T ; Heidler, Juliana...
http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/54397.  , 2019
Link: http://publikationen.ub...
 
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11

Cornelia de Lange syndrome in diverse populations:

Dowsett, Leah ; Porras, Antonio R ; Kruszka, Paul...
qt6bg5187f.  , 2019
Link: https://escholarship.org..
 
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12

Spectrum of K(V)2.1 Dysfunction in KCNB1-associated Neurode..:

Kang, Seok Kyu ; Vanoye, Carlos G ; Misra, Sunita N...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7025436/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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13

Hyperinsulinemic Hypoglycemia in Seven Patients with de nov..:

Grand, Katheryn ; Gonzalez-Gandolfi, Christina ; Ackermann, Amanda M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454923/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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14

Intellectual disability and epilepsy due to the K/L-mediate..:

Ward, David Isum ; Buckley, Bethany A ; Leon, Eyby...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679916/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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15

Clinical exome sequencing reveals locus heterogeneity and p..:

Yuan, Bo ; Neira, Juanita ; Pehlivan, Davut...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395558/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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