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PubPharm (167)
41
The Genetic Landscape of Mitochondrial Diseases in Spain : A Nationwide Call
enthalten in:
Genes
| 2021
von
Bellusci, M.
|
Paredes-Fuentes, A.
|
Ruiz-Pesini, E.
| +105
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42
Collaborative model for diagnosis and treatment of very rare diseases : experience in Spain with thymidine kinase 2 deficiency
enthalten in:
Orphanet journal of rare diseases
| 2021
von
Domínguez-González, C.
|
Madruga-Garrido, M.
|
Hirano, M.
| +9
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43
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
enthalten in:
Orphanet journal of rare diseases
| 2021
von
Domínguez-González, C.
|
Madruga-Garrido, M.
|
Hirano, M.
| +9
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44
Correction to : Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
enthalten in:
European journal of human genetics : EJHG
| 2021
von
Matalonga, L.
|
Hernández-Ferrer, C.
|
Piscia, D.
| +124
ErratumFor: Eur J Hum Genet. 2021 Sep;29(9):1337-1347. - PMID 34075210
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45
Author Correction : The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
enthalten in:
Scientific reports
| 2021
von
Vidal, S.
|
Brandi, N.
|
Pacheco, P.
| +109
ErratumFor: Sci Rep. 2017 Sep 25;7(1):12288. - PMID 28947817
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46
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
enthalten in:
European journal of human genetics : EJHG
| 2021
von
Töpf, A.
|
Pyle, A.
|
Griffin, H.
| +59
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47
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
enthalten in:
European journal of human genetics : EJHG
| 2021
von
Matalonga, L.
|
Hernández-Ferrer, C.
|
Piscia, D.
| +124
ErratumIn: Eur J Hum Genet. 2021 Aug 16;:. - PMID 34393220
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48
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases
enthalten in:
Clinical chemistry
| 2021
von
Trifunov, S.
|
Paredes-Fuentes, A.
|
Badosa, C.
| +16
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49
International retrospective natural history study of LMNA-related congenital muscular dystrophy
enthalten in:
Brain communications
| 2021
von
Ben Yaou, R.
|
Yun, P.
|
Dabaj, I.
| +41
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50
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
enthalten in:
Pediatric neurology
| 2021
von
Natera-de Benito, D.
|
Sola, A.
|
Sousa, P.
| +13
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European journal of human genetics : EJHG
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Acta neuropathologica
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EC 2.7.1.21
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Multicenter Study
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Review
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Thymidine Kinase
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thymidine kinase 2
6
Duchenne muscular dystrophy
6
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Collagen Type VI
4
Dok-7
4
Fluoxetine
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