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Sambuughin, Nyamkhishig
63
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Online (63)
Mediatypes
Articles (Online) (38)
OpenAccess-fulltext (25)
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1
Genome-Wide Analysis of Exertional Rhabdomyolysis in Sickle..:
Ren, Mingqiang
;
Sambuughin, Nyamkhishig
;
Mungunshukh, Ognoon
...
Genes. 15 (2024) 4 - p. 408 , 2024
Link:
https://doi.org/10.3390/..
?
2
Optimization of Omega-3 Index Levels in Athletes at the US ..:
Rittenhouse, Melissa
;
Sambuughin, Nyamkhishig
;
Deuster, Patricia
Nutrients. 14 (2022) 14 - p. 2966 , 2022
Link:
https://doi.org/10.3390/..
?
3
Updated variant curation expert panel criteria and pathogen..:
Johnston, Jennifer J
;
Dirksen, Robert T
;
Girard, Thierry
...
Human Molecular Genetics. 31 (2022) 23 - p. 4087-4093 , 2022
Link:
https://doi.org/10.1093/..
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4
eP364: Lessons from pathogenicity classifications for 251 R..:
Johnston, Jennifer
;
Dirksen, Robert
;
Girard, Thierry
...
Genetics in Medicine. 24 (2022) 3 - p. S229-S230 , 2022
Link:
https://doi.org/10.1016/..
?
5
Variant curation expert panel recommendations for RYR1 path..:
Johnston, Jennifer J.
;
Dirksen, Robert T.
;
Girard, Thierry
...
Genetics in Medicine. 23 (2021) 7 - p. 1288-1295 , 2021
Link:
https://doi.org/10.1038/..
?
6
Pathogenic and rare deleterious variants in multiple genes ..:
Sambuughin, Nyamkhishig
;
Mungunsukh, Ognoon
;
Ren, Mingqiang
...
Molecular Genetics and Metabolism Reports. 16 (2018) - p. 76-81 , 2018
Link:
https://doi.org/10.1016/..
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7
Response to Finsterer and Zarrouk-Mahjoub:
Sambuughin, Nyamkhishig
;
Smith, Jonathan
;
O'Connor, Francis
.
Molecular Genetics and Metabolism Reports. 17 (2018) - p. 2 , 2018
Link:
https://doi.org/10.1016/..
?
8
Multifactorial Origin of Exertional Rhabdomyolysis, Recurre..:
Sambuughin, Nyamkhishig
;
Ren, Mingqiang
;
Capacchione, John F.
...
Case Reports in Genetics. 2018 (2018) - p. 1-6 , 2018
Link:
https://doi.org/10.1155/..
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9
Adult-onset autosomal dominant spastic paraplegia linked to..:
Sambuughin, Nyamkhishig
;
Goldfarb, Lev G.
;
Sivtseva, Tatiana M.
...
BMC Neurology. 15 (2015) 1 - p. , 2015
Link:
https://doi.org/10.1186/..
?
10
A new disease allele for the p.C30071R mutation in titin ca..:
Pfeffer, Gerald
;
Sambuughin, Nyamkhishig
;
Olivé, Montse
...
Neuromuscular Disorders. 24 (2014) 3 - p. 241-244 , 2014
Link:
https://doi.org/10.1016/..
?
11
Exome analysis identifies Brody myopathy in a family diagno..:
Sambuughin, Nyamkhishig
;
Zvaritch, Elena
;
Kraeva, Natasha
...
Molecular Genetics & Genomic Medicine. 2 (2014) 6 - p. 472-483 , 2014
Link:
https://doi.org/10.1002/..
?
12
Exome sequencing reveals SCO2 mutations in a family present..:
Sambuughin, Nyamkhishig
;
Liu, Xinyue
;
Bijarnia, Sunita
...
Journal of Human Genetics. 58 (2013) 4 - p. 226-228 , 2013
Link:
https://doi.org/10.1038/..
?
13
Exome sequencing identifies titin mutations causing heredit..:
Toro, Camilo
;
Olivé, Montse
;
Dalakas, Marinos C
...
BMC Neurology. 13 (2013) 1 - p. , 2013
Link:
https://doi.org/10.1186/..
?
14
KBTBD13 interacts with Cullin 3 to form a functional ubiqui..:
Sambuughin, Nyamkhishig
;
Swietnicki, Wieslaw
;
Techtmann, Stephen
...
Biochemical and Biophysical Research Communications. 421 (2012) 4 - p. 743-749 , 2012
Link:
https://doi.org/10.1016/..
?
15
Investigation of the Relationship Between Serum Creatine Ki..:
Landau, Mark E.
;
Kenney, Kimbra
;
Deuster, Patricia
...
Military Medicine. 177 (2012) 11 - p. 1359-1365 , 2012
Link:
https://doi.org/10.7205/..
1-15