E-LIB Suche - Ergebnisse für: Boyden, Steven E.

1

Novel molecular mechanism in Malan syndrome uncovered throu..:

Zhao, Jian ; Longo, Nicola ; Lewis, Robert G....
American Journal of Medical Genetics Part A. 194 (2024) 5 - p. , 2024

2

Comprehensive variant calling from whole‐genome sequencing ..:

Nicholas, Thomas J. ; Al‐Sweel, Najla ; Farrell, Andrew...
Molecular Genetics & Genomic Medicine. 10 (2022) 4 - p. , 2022

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

3

Correction to: Disruption of human meiotic telomere complex..:

GEMINI Consortium ; Salas-Huetos, Albert ; Tüttelmann, Frank...
Human Genetics. 140 (2020) 1 - p. 229-229 , 2020

Link: https://doi.org/10.1007/..

4

HLA and autoantibodies define scleroderma subtypes and risk..:

Gourh, Pravitt ; Safran, Sarah A. ; Alexander, Theresa...
Proceedings of the National Academy of Sciences of the United States of America. 117 (2020) 1 - p. 552-562 , 2020

Link: https://www.jstor.org/st..

5

Disruption of human meiotic telomere complex genes TERB1, T..:

GEMINI Consortium ; Salas-Huetos, Albert ; Tüttelmann, Frank...
Human Genetics. 140 (2020) 1 - p. 217-227 , 2020

Link: https://doi.org/10.1007/..

6

HLAand autoantibodies define scleroderma subtypes and risk ..:

Gourh, Pravitt ; Safran, Sarah A. ; Alexander, Theresa...
Proceedings of the National Academy of Sciences. 117 (2019) 1 - p. 552-562 , 2019

Link: https://doi.org/10.1073/..

7

Mutations that prevent caspase cleavage of RIPK1 cause auto..:

Lalaoui, Najoua ; Boyden, Steven E. ; Oda, Hirotsugu...
Nature. 577 (2019) 7788 - p. 103-108 , 2019

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

8

Mutational and phenotypic spectra ofKCNE1deficiency in Jerv..:

Faridi, Rabia ; Tona, Risa ; Brofferio, Alessandra...
Human Mutation. , 2018

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

9

Brief Report: Whole‐Exome Sequencing to Identify Rare Varia..:

Gourh, Pravitt ; Remmers, Elaine F. ; Boyden, Steven E....
Arthritis & Rheumatology. 70 (2018) 10 - p. 1654-1660 , 2018

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

10

A missense mutation in TFRC, encoding transferrin receptor ..:

Jabara, Haifa H ; Boyden, Steven E ; Chou, Janet...
Nature Genetics. 48 (2015) 1 - p. 74-78 , 2015

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

11

Exome sequencing identifies a novel SMCHD1 mutation in faci..:

Mitsuhashi, Satomi ; Boyden, Steven E. ; Estrella, Elicia A....
Neuromuscular Disorders. 23 (2013) 12 - p. 975-980 , 2013

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

12

Mutations in the satellite cell gene MEGF10 cause a recessi..:

Boyden, Steven E. ; Mahoney, Lane J. ; Kawahara, Genri...
neurogenetics. 13 (2012) 2 - p. 115-124 , 2012

Link: https://doi.org/10.1007/..

13

Molecular diagnosis of hereditary inclusion body myopathy b..:

Boyden, Steven E ; Duncan, Anna R ; Estrella, Elicia A...
BMC Medical Genetics. 12 (2011) 1 - p. , 2011

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

14

Efficient identification of novel mutations in patients wit..:

Boyden, Steven E. ; Salih, Mustafa A. ; Duncan, Anna R....
neurogenetics. 11 (2010) 4 - p. 449-455 , 2010

Link: https://doi.org/10.1007/..

15

High-Density Genomewide Linkage Analysis of Exceptional Hum..:

Boyden, Steven E. ; Kunkel, Louis M. ; Toland, Amanda Ewart
PLoS ONE. 5 (2010) 8 - p. e12432 , 2010

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