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Diaz, Jullianne
29
results:
Search for persons
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Online (29)
Mediatypes
Articles (Online) (16)
OpenAccess-fulltext (13)
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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/..
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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/..
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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/..
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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
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/..
?
9
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/..
?
10
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/..
?
11
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/..
?
12
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/..
?
13
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/..
?
14
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/..
?
15
Intellectual disability and epilepsy due to the K/L‐mediate..:
Ward, David Isum
;
Buckley, Bethany A.
;
Leon, Eyby
...
American Journal of Medical Genetics Part A. 176 (2018) 3 - p. 551-559 , 2018
Link:
https://doi.org/10.1002/..
1-15