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Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0124-4
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- Article
Hypogonadism and neurological diseases.
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- Neurological Sciences, 2013, v. 34, n. 5, p. 629, doi. 10.1007/s10072-012-1278-4
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- Article
The selective cytotoxic anti-cancer properties and proteomic analysis of Trigonella Foenum-Graecum.
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- BMC Complementary & Alternative Medicine, 2014, v. 14, p. 1, doi. 10.1186/1472-6882-14-114
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- Article
Large-scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype.
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- Clinical Case Reports, 2016, v. 4, n. 2, p. 111, doi. 10.1002/ccr3.435
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- Article
Epilepsy Surgery Series: A Study of 502 Consecutive Patients from a Developing Country.
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- Epilepsy Research & Treatment, 2014, p. 1, doi. 10.1155/2014/286801
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- Article
Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis.
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- Application of Clinical Genetics, 2018, v. 11, p. 129, doi. 10.2147/TACG.S172176
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- Article
Response of Ictal Asystole to Pacemaker Implantation Documented by Video-EEG/ECG.
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- Canadian Journal of Neurological Sciences, 2013, v. 40, n. 4, p. 606, doi. 10.1017/S0317167100014773
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- Article
The Risk Of Seizure-Related Hospitalization Among Older Adults On Levetiracetam Monotherapy: A Retrospective Comparative Cohort Study.
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- Neuropsychiatric Disease & Treatment, 2019, v. 15, p. 2781, doi. 10.2147/NDT.S221403
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- Article