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/vufind/Search/Results?lookfor=%22Balasubramaniam%2C+Shanti%22&type=Person&sort=year
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PubPharm (86)
1
The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses
enthalten in:
bioRxiv.org
| 2023
von
Rius, R.
|
Compton, A.
|
Baker, N.
| +64
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2
Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome
enthalten in:
ResearchSquare.com
| 2023
von
Roesch, S.
|
O´Sullivan, A.
|
Tschani, S.
| +26
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3
Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency : Case and approach
enthalten in:
Brain & development
| 2023
von
Wong, R.
|
Mohammad, S.
|
Parayil Sankaran, B.
| +6
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4
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant
enthalten in:
JIMD reports
| 2022
von
Wong, W.
|
Balasubramaniam, S.
|
Wong, R.
| +4
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5
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease
enthalten in:
Human molecular genetics
| 2022
von
Lee, R.
|
Balasubramaniam, S.
|
Stentenbach, M.
| +29
ErratumIn: Hum Mol Genet. 2023 Mar 20;32(7):1236. - PMID 36563328
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6
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder
enthalten in:
JIMD reports
| 2022
von
Andzelm, M.
|
Balasubramaniam, S.
|
Yang, E.
| +8
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7
Genomic sequencing for the diagnosis of childhood mitochondrial disorders : a health economic evaluation
enthalten in:
European journal of human genetics : EJHG
| 2022
von
Wu, Y.
|
Balasubramaniam, S.
|
Rius, R.
| +3
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8
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2022
von
Bournazos, A.
|
Riley, L.
|
Bommireddipalli, S.
| +99
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9
Patient care standards for primary mitochondrial disease in Australia : an Australian adaptation of the Mitochondrial Medicine Society recommendations
enthalten in:
Internal medicine journal
| 2022
von
Sue, C.
|
Balasubramaniam, S.
|
Bratkovic, D.
| +19
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10
Teaching NeuroImage : Bilateral Nucleus Tractus Solitarius Lesions in Neurogenic Respiratory Failure
enthalten in:
Neurology
| 2022
von
Parayil Sankaran, B.
|
Wortmann, S.
|
Willemsen, M.
| +1
ErratumIn: Neurology. 2023 Jun 30;:. - PMID 37399432
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86
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22
Journal of inherited metabolic disease
9
JIMD reports
5
American journal of human genetics
5
The journal of pediatric endocrinology and meta...
4
JIMD Reports
3
Molecular genetics and metabolism
2
Annals of neurology
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Brain & development
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British journal of haematology
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Genetics in medicine : official journal of the ...
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Journal of Inherited Metabolic Disease
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2
Journal of pediatric neurology
2
Mitochondrion
2
Orphanet journal of rare diseases
1
American journal of medical genetics. Part A
1
Annals of Neurology
1
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1
European journal of clinical nutrition
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Thema
33
Journal Article
21
Case Reports
15
Research Support, Non-U.S. Gov't
6
Orotic Acid
4
Pyridoxal Phosphate
3
AICAR
3
AMPD1 Gene
3
Amino Acid Profile
3
Biliary Atresia
3
Burst Suppression
3
Cholestatic Jaundice
3
Diagnosis
3
Enzyme Replacement Therapy
3
Epileptic Encephalopathy
3
Hypophosphatasia
3
Intrahepatic Cholestasis
3
Leigh Syndrome
3
Manganese Deficiency
3
Membrane Proteins
3
Mitochondrial Disorder
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Erscheinungszeitraum
29
2020-
57
2010-2019
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