E-LIB Suche - Ergebnisse für: Kitzman, Jacob

1

Aberrant activation of TCL1A promotes stem cell expansion i..:

Weinstock, Joshua S ; Gopakumar, Jayakrishnan ; Burugula, Bala Bharathi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10360040/. , 2023

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

2

Benchmarking splice variant prediction algorithms using mas..:

Smith, Cathy ; Kitzman, Jacob
doi:10.5281/zenodo.8351872. , 2023

Link: https://zenodo.org/recor..

3

Benchmarking splice variant prediction algorithms using mas..:

Helen Hartman ; Kitzman, Jacob
doi:10.5281/zenodo.8351872. , 2023

Link: https://zenodo.org/recor..

4

Novel Pathogenic Variants in LHX3, LHX4 and GLI2 Identified..:

Vishnopolska, Sebastian ; Mercogliano, María Florencia ; Camilletti, Maria Andrea...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8090718/. , 2021

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

5

High-throughput splicing assays identify missense and silen..:

Gergics, Peter ; Smith, Cathy ; Bando, Hironori...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.06.013. , 2021

Link: https://amu.hal.science/..

6

High-throughput splicing assays identify missense and silen..:

Gergics, Peter ; Smith, Cathy ; Bando, Hironori...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.06.013. , 2021

Link: https://hal-amu.archives..

7

High-throughput splicing assays identify missense and silen..:

Gergics, Peter ; Smith, Cathy ; Bando, Hironori...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.06.013. , 2021

Link: https://amu.hal.science/..

8

MON-717 Novel GLI2 Mutations Identified in Pediatric Patien..:

Vishnopolska, Sebastian A ; Braslavsky, Debora ; Keselman, Ana Claudia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208733/. , 2020

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

9

SUN-245 Heterozygous GH1 p.R209H Variant within a Large Ped..:

Sanguineti, Nora ; Scaglia, Paula ; Braslavsky, Debora...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553300/. , 2019

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

10

MON-472 Potentially Pathogenic Variants Identified in Patie..:

Vishnopolska, Sebastian ; Mortensen, Amanda ; Braslavsky, Debora...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550668/. , 2019

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

11

Clinical Implications of Identifying Pathogenic Variants in..:

Wolford, Brooke N ; Hornsby, Whitney E ; Guo, Dongchuan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6582991/. , 2019

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

12

Genome-wide Study of Atrial Fibrillation Identifies Seven R..:

Nielsen, Jonas B ; Fritsche, Lars G ; Zhou, Wei...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777936/. , 2018

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

13

Global dynamics of stage-specific transcription factor bind..:

Hosoya, Tomonori ; D'Oliveira Albanus, Ricardo ; Hensley, John...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884796/. , 2018

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

14

Biobank-driven genomic discovery yields new insight into at..:

Nielsen, Jonas B ; Thorolfsdottir, Rosa B ; Fritsche, Lars G...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530775/. , 2018

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

15

Protein-altering and regulatory genetic variants near GATA4..:

Yang, Bo ; Zhou, Wei ; Jiao, Jiao...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458508/. , 2017

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