E-LIB Suche - Ergebnisse für: Adam Jackson

1

Variants in ZFX are associated with an X-linked neurodevelo..:

Shepherdson, James L. ; Hutchison, Katie ; Don, Dilan Wellalage...
The American Journal of Human Genetics. 111 (2024) 3 - p. 487-508 , 2024

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

2

Biallelic CRELD1 variants cause a multisystem syndrome, inc..:

Jeffries, Lauren ; Mis, Emily K. ; McWalter, Kirsty...
Genetics in Medicine. 26 (2024) 2 - p. 101023 , 2024

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

3

LobsterPy: A package to automatically analyze LOBSTERruns:

Naik, Aakash Ashok ; Ueltzen, Katharina ; Ertural, Christina..
Journal of Open Source Software. 9 (2024) 94 - p. 6286 , 2024

Link: https://doi.org/10.21105..

4

Amygdala-hippocampus somatostatin interneuron beta-synchron..:

Jackson, Adam D. ; Cohen, Joshua L. ; Phensy, Aarron J....
Neuron. 112 (2024) 7 - p. 1182-1195.e5 , 2024

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

5

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics. , 2024

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

6

Preventing Machines From Lying: Why Interdisciplinary Colla..:

Wilson, Tim J ; Bergman, Jesper ; Jackson, Adam.
The Journal of Criminal Law. 88 (2024) 2 - p. 105-129 , 2024

Link: https://doi.org/10.1177/..

7

Gradient Boosted Machine Learning Model to Predict H2, CH4,..:

Bailey, Tom ; Jackson, Adam ; Berbece, Razvan-Antonio...
Journal of Chemical Information and Modeling. 63 (2023) 15 - p. 4545-4551 , 2023

Link: https://doi.org/10.1021/..

8

Clinical, genetic, epidemiologic, evolutionary, and functio..:

Jackson, Adam ; Lin, Sheng-Jia ; Jones, Elizabeth A....
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100186 , 2023

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

9

The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal...
The American Journal of Human Genetics. 110 (2023) 6 - p. 963-978 , 2023

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

10

Null and missense mutations of ERI1 cause a recessive pheno..:

Guo, Long ; Salian, Smrithi ; Xue, Jing-yi...
The American Journal of Human Genetics. 110 (2023) 7 - p. 1068-1085 , 2023

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

11

Rare EIF4A2 variants are associated with a neurodevelopment..:

Paul, Maimuna S. ; Duncan, Anna R. ; Genetti, Casie A....
The American Journal of Human Genetics. 110 (2023) 1 - p. 120-145 , 2023

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

12

Lunapark deficiency leads to an autosomal recessive neurode..:

Accogli, Andrea ; Zaki, Maha S ; Al-Owain, Mohammed...
Brain Communications. , 2023

Link: https://doi.org/10.1093/..

13

SAT292 Adrenal Insufficiency Associated With Biallelic Muta..:

Smith, Chris ; Jackson, Adam ; Al-Salihi, Ahmed...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1210/..

14

Pituitary apoplexy during pregnancy with transsphenoidal re..:

Corn, Megan ; Nickell, Austin ; Lessard, Collette.
Case Reports in Women's Health. 39 (2023) - p. e00543 , 2023

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

15

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
Genetics in Medicine. 25 (2023) 4 - p. 100018 , 2023

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