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1.
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Hum Mol Genet
; 28(17): 2937-2951, 2019 09 01.
Article
in English
| MEDLINE | ID: mdl-31152168
2.
The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.
J Inherit Metab Dis
; 44(2): 492-501, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33368311
3.
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
Am J Med Genet A
; 176(3): 692-698, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29388319
4.
Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.
J Neuropathol Exp Neurol
; 78(3): 283-287, 2019 03 01.
Article
in English
| MEDLINE | ID: mdl-30715496
5.
Sdha+/- Rats Display Minimal Muscle Pathology Without Significant Behavioral or Biochemical Abnormalities.
J Neuropathol Exp Neurol
; 77(8): 665-672, 2018 08 01.
Article
in English
| MEDLINE | ID: mdl-29850869
6.
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.
J Pediatr Genet
; 6(2): 61-76, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28496993
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