E-LIB Suche - Ergebnisse für: del Angel, Guillermo

1

The Global ALPL gene variant classification project: Dedica..:

Farman, Mariam R. ; Rehder, Catherine ; Malli, Theodora...
Bone. 178 (2024) - p. 116947 , 2024

2

Response to Grosse et al:

Kingsmore, Stephen F. ; Smith, Laurie D. ; Kunard, Chris M....
The American Journal of Human Genetics. 110 (2023) 6 - p. 1017 , 2023

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

3

A genome sequencing system for universal newborn screening,..:

Kingsmore, Stephen F. ; Smith, Laurie D. ; Kunard, Chris M....
The American Journal of Human Genetics. 109 (2022) 9 - p. 1605-1619 , 2022

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

4

Investigation of ALPL variant states and clinical outcomes:..:

Kishnani, Priya S. ; del Angel, Guillermo ; Zhou, Shanggen.
Molecular Genetics and Metabolism. 133 (2021) 1 - p. 113-121 , 2021

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

5

Genetic characterization of a large cohort of individuals w..:

Rush, Eric ; del Angel, Guillermo ; Bates, Toby..
Molecular Genetics and Metabolism. 132 (2021) - p. S91 , 2021

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

6

Predicting mutations deleterious to function in beta-lactam..:

Negron, Christopher ; Pearlman, David A. ; del Angel, Guillermo.
PLOS ONE. 14 (2019) 3 - p. e0214015 , 2019

Link: https://doi.org/10.1371/..

7

Novel LIPA mutations resulting in lysosomal acid lipase def..:

Reynders, John ; Burton, Barbara K. ; del Angel, Guillermo
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S114-S115 , 2017

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

8

From FastQ Data to High‐Confidence Variant Calls: The Genom..:

Van der Auwera, Geraldine A. ; Carneiro, Mauricio O. ; Hartl, Christopher...
Current Protocols in Bioinformatics. 43 (2013) 1 - p. , 2013

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

9

A framework for variation discovery and genotyping using ne..:

DePristo, Mark A ; Banks, Eric ; Poplin, Ryan...
Nature Genetics. 43 (2011) 5 - p. 491-498 , 2011

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

10

Optimal power and retransmission control policies for rando..:

del Angel, Guillermo ; Fine, Terrence L.
IEEE/ACM Transactions on Networking (TON). 12 (2004) 6 - p. 1156-1166 , 2004

Link: https://dl.acm.org/doi/1..

11

P146: BeginNGS, an artificial intelligence-enabled genome s..:

Schleit, Jennifer ; Wright, Meredith ; Olsen, Lauren...
Genetics in Medicine Open. 2 (2024) - p. 101043 , 2024

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

12

Response to Grosse et al:

Kingsmore, Stephen F ; Smith, Laurie D ; Kunard, Chris M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10256999/. , 2023

Link: http://www.ncbi.nlm.nih...

13

A genome sequencing system for universal newborn screening,..:

Kingsmore, Stephen F ; Smith, Laurie D ; Kunard, Chris M...
qt3tv469xn. , 2022

Link: https://escholarship.org..

14

Functional characterization of 105 Factor H variants associ..:

Martín Merinero, Héctor ; Zhang, Yuzhou ; Arjona, Emilia...
#PLACEHOLDER_PARENT_METADATA_VALUE#. , 2021

Link: http://hdl.handle.net/10..

15

Large‐scale in vitro functional testing and novel variant s..:

del Angel, Guillermo ; Reynders, John ; Negron, Christopher..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317754/. , 2020

Link: http://www.ncbi.nlm.nih...