E-LIB Suche - Ergebnisse für: Kiel, Mark

1

O33: Comprehensive identification of gene-disease relations..:

Kiel, Mark ; Bissonnette, Jeffrey ; Hrelja, Emir...
Genetics in Medicine Open. 2 (2024) - p. 101023 , 2024

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

2

P250: Clarification of variant reporting for homologous gen..:

Curry, Kathryn ; Syverud, Natalie ; McGill, Anna...
Genetics in Medicine Open. 2 (2024) - p. 101146 , 2024

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

3

Correspondence on "Comparison of literature mining tools fo..:

Kiel, Mark J. ; Kozaric, Amina
Genetics in Medicine. 26 (2024) 7 - p. 101161 , 2024

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

4

Revealing the genetic complexity of long-chain fatty acid o..:

Baker II, Peter ; Miller, Vanessa Rangel ; Richbourg, Heather...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108206 , 2024

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

5

P032: Decoding the genetic tapestry of long chain fatty aci..:

Miller, Vanessa Rangel ; Richbourg, Heather ; Vockley, Jerry...
Genetics in Medicine Open. 2 (2024) - p. 100909 , 2024

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

6

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/..

7

P170: An estimation of global genetic prevalence of PLA2G6-..:

Kiel, Mark ; Kozaric, Amina ; Singer-Berk, Moriel...
Genetics in Medicine Open. 2 (2024) - p. 101067 , 2024

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

8

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/..

9

Estimation of ENPP1 deficiency genetic prevalence using a c..:

Chunn, Lauren M. ; Bissonnette, Jeffrey ; Heinrich, Stefanie V....
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

10

ENPP1 deficiency: A clinical update on the relevance of ind..:

Mercurio, Stephanie A. ; Chunn, Lauren M. ; Khursigara, Gus...
Human Mutation. 43 (2022) 12 - p. 1673-1705 , 2022

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

11

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/..

12

A comprehensive locus specific database of PHEX gene varian..:

Miller, Nicole ; Daugherty, Sean ; Sarafrazi, Soodabeh...
Molecular Genetics and Metabolism. 132 (2021) - p. S133 , 2021

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

13

Novel PHEX gene locus‐specific database: Comprehensive char..:

Sarafrazi, Soodabeh ; Daugherty, Sean C. ; Miller, Nicole...
Human Mutation. 43 (2021) 2 - p. 143-157 , 2021

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

14

Mastermind: A Comprehensive Genomic Association Search Engi..:

Chunn, Lauren M. ; Nefcy, Diane C. ; Scouten, Rachel W....
Frontiers in Genetics. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

15

Germline Genetic Features of Young Individuals With Colorec..:

Stoffel, Elena M. ; Koeppe, Erika ; Everett, Jessica...
Gastroenterology. 154 (2018) 4 - p. 897-905.e1 , 2018

Link: https://doi.org/10.1053/..