E-LIB Suche - Ergebnisse für: Diaz, Jullianne

1

P450: The elephant in the shROOM: Evidence for SHROOM4 in d..:

Diaz, Jullianne ; Martin, Megan ; Al-Sweel, Najla
Genetics in Medicine Open. 1 (2023) 1 - p. 100497 , 2023

Link: https://doi.org/10.1016/..

2

eP341: The full (mutation) picture: One-third of patients w..:

Diaz, Jullianne ; Lovelace, Erin ; Ortega, Allison.
Genetics in Medicine. 24 (2022) 3 - p. S213-S214 , 2022

Link: https://doi.org/10.1016/..

3

PRKX/PRKY-mediated Xp;Yp translocations: a significant cont..:

Diaz, Jullianne ; Rimmasch, Megan ; Vanzo, Rena.
Molecular Genetics and Metabolism. 132 (2021) - p. S234-S235 , 2021

Link: https://doi.org/10.1016/..

4

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/..

5

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/..

6

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/..

7

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/..

8

Missense variants inTAF1and developmental phenotypes: Chall..:

Cheng, Hanyin ; Capponi, Simona ; Wakeling, Emma...
Human Mutation. 41 (2019) 2 - p. 449-464 , 2019

Link: https://doi.org/10.1002/..

9

Hyperinsulinemic hypoglycemia in seven patients with de nov..:

Grand, Katheryn ; Gonzalez‐Gandolfi, Christina ; Ackermann, Amanda M....
American Journal of Medical Genetics Part A. 179 (2019) 4 - p. 542-551 , 2019

Link: https://doi.org/10.1002/..

10

MAP1B related syndrome: Case presentation and review of lit..:

Julca, Diana M. ; Diaz, Jullianne ; Berger, Seth.
American Journal of Medical Genetics Part A. 179 (2019) 9 - p. 1703-1708 , 2019

Link: https://doi.org/10.1002/..

11

TFE3‐associated neurodevelopmental disorder: A distinct rec..:

Diaz, Jullianne ; Berger, Seth ; Leon, Eyby
American Journal of Medical Genetics Part A. 182 (2019) 3 - p. 584-590 , 2019

Link: https://doi.org/10.1002/..

12

Clinical exome sequencing reveals locus heterogeneity and p..:

Yuan, Bo ; Neira, Juanita ; Pehlivan, Davut...
Genetics in Medicine. 21 (2019) 3 - p. 663-675 , 2019

Link: https://doi.org/10.1038/..

13

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

Leon, Eyby ; Diaz, Jullianne ; Castilla‐Vallmanya, Laura...
American Journal of Medical Genetics Part A. 182 (2019) 1 - p. 201-204 , 2019

Link: https://doi.org/10.1002/..

14

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/..

15

Presentation of a recurrent FMR1 missense mutation (R138Q) ..:

Diaz, Jullianne ; Scheiner, Cathy ; Leon, Eyby
Translational Science of Rare Diseases. 3 (2018) 3-4 - p. 139-144 , 2018

Link: https://doi.org/10.3233/..