I agree that this site is using cookies. You can find further informations here.
X
Pena, Loren DM
77  results:
Search for persons X
?
1

Clinical delineation and natural history of the PIK3CA‐rela..:

Keppler‐Noreuil, Kim M. ; Sapp, Julie C. ; Lindhurst, Marjorie J....
American Journal of Medical Genetics Part A.  164 (2014)  7 - p. 1713-1733 , 2014
Link: https://doi.org/10.1002/..
 
?
2

Loss of IRF2BPL impairs neuronal maintenance through excess..:

Marcogliese, Paul C ; Dutta, Debdeep ; Ray, Shrestha Sinha...
qt8sh3t8bg.  , 2022
Link: https://escholarship.org..
 
?
3

GATAD2B-associated neurodevelopmental disorder (GAND): clin..:

Shieh, Christine ; Jones, Natasha ; Vanle, Brigitte...
qt7683d0mf.  , 2020
Link: https://escholarship.org..
 
?
4

Clinical characteristics and genotypes in the ADVANCE basel..:

Kishnani, Priya S ; Gibson, James B ; Gambello, Michael J...
qt0z94x25h.  , 2019
Link: https://escholarship.org..
 
?
5

Loss of tubulin deglutamylase CCP1 causes infantile‐onset n..:

Shashi, Vandana ; Magiera, Maria M ; Klein, Dennis...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276871/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
?
6

Looking beyond the exome: a phenotype-first approach to mol..:

Pena, Loren DM ; Jiang, Yong-Hui ; Schoch, Kelly...
qt1jn52197.  , 2018
Link: https://escholarship.org..
 
?
7

Further evidence for the involvement of EFL1 in a Shwachman..:

Tan, Queenie K-G ; Cope, Heidi ; Spillmann, Rebecca C...
qt0x70z6sn.  , 2018
Link: https://escholarship.org..
 
?
8

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Char..:

Schoch, Kelly ; Meng, Linyan ; Szelinger, Szabolcs...
qt7290n3b3.  , 2017
Link: https://escholarship.org..
 
?
9

Looking beyond the exome: a phenotype-first approach to mol..:

Pena, Loren DM ; Jiang, Yong-Hui ; Schoch, Kelly...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5851806/.  , 2017
Link: http://www.ncbi.nlm.nih...
 
?
10

Clinical Delineation and Natural History of the PIK3CA-Rela..:

Keppler-Noreuil, Kim M ; Sapp, Julie C ; Lindhurst, Marjorie J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC.  , 2014
Link: http://www.ncbi.nlm.nih...
 
?
11

Loss of tubulin deglutamylase CCP1 causes infantile-onset n..:

Shashi, Vandana ; Magiera, Maria, M ; Klein, Dennis...
info:eu-repo/semantics/altIdentifier/doi/10.15252/embj.2018100540.  , 2018
Link: https://hal.science/hal-..
 
?
12

Loss of tubulin deglutamylase CCP1 causes infantile-onset n..:

Shashi, Vandana ; Magiera, Maria ; Klein, Dennis...
info:eu-repo/semantics/altIdentifier/doi/10.15252/embj.2018100540.  , 2018
Link: https://hal.archives-ouv..
 
?
13

Loss of tubulin deglutamylase CCP1 causes infantile-onset n..:

Shashi, Vandana ; Magiera, Maria, M ; Klein, Dennis...
info:eu-repo/semantics/altIdentifier/doi/10.15252/embj.2018100540.  , 2018
Link: https://hal.science/hal-..
 
?
14

Loss of TBC1D2B causes a progressive neurological disorder ..:

Harms, Frederike L. ; Rexach, Jessica Erin ; Efthymiou, Stephanie...
European Journal of Human Genetics.  32 (2024)  5 - p. 558-566 , 2024
Link: https://doi.org/10.1038/..
 
?
15

Filaggrin loss-of-function variants are associated with ato..:

Virolainen, Samuel J. ; Satish, Latha ; Biagini, Jocelyn M....
JCI Insight.  9 (2024)  9 - p. , 2024
Link: https://doi.org/10.1172/..
 
1-15