E-LIB Suche - Ergebnisse für: Eyby Leon

1

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/..

2

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...

3

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

Chai, Guoliang ; Webb, Alice ; Li, Chen...
qt6w53352f. , 2021

Link: https://escholarship.org..

4

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...

5

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...

6

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...

7

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..

8

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...

9

Cornelia de Lange syndrome in diverse populations:

Dowsett, Leah ; Porras, Antonio R ; Kruszka, Paul...
qt6w35196f. , 2019

Link: https://escholarship.org..

10

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...

11

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...

12

Cornelia de Lange syndrome in diverse populations:

Dowsett, Leah ; Porras, Antonio R ; Kruszka, Paul...
qt6bg5187f. , 2019

Link: https://escholarship.org..

13

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...

14

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...

15

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...