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PubPharm (162)
41
Correction : The genomic and clinical landscape of fetal akinesia
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2020
von
Pergande, M.
|
Motameny, S.
|
Özdemir, .
| +28
ErratumFor: Genet Med. 2020 Mar;22(3):511-523. - PMID 31680123
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42
Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency
enthalten in:
Neuropediatrics
| 2020
von
Solmaz, I.
|
Aytekin, E.
|
Çağdaş, D.
| +5
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43
The genomic and clinical landscape of fetal akinesia
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2020
von
Pergande, M.
|
Motameny, S.
|
Özdemir, .
| +28
ErratumIn: Genet Med. 2020 May 26;:. - PMID 32451403
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44
A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories
enthalten in:
Genetic testing and molecular biomarkers
| 2020
von
Bulduk, B.
|
Kiliç, H.
|
Bekircan-Kurt, C.
| +4
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45
Erratum to 'Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency' [Pediatric Neurology 99 (2019) 69-75
enthalten in:
Pediatric neurology
| 2020
von
Yıldız, Y.
|
Talim, B.
|
Haliloglu, G.
| +6
ErratumFor: Pediatr Neurol. 2019 Oct;99:69-75. - PMID 31331668
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46
Selenoprotein N‐related myopathy : a retrospective natural history study to guide clinical trials
enthalten in:
Annals of Clinical and Translational Neurology
| 2020
von
Silwal, A.
|
Sarkozy, A.
|
Scoto, M.
| +16
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47
Novel insights into diabetes mellitus due to DNAJC3‐ defect : Evolution of neurological and endocrine phenotype in the pediatric age group
enthalten in:
Pediatric Diabetes
| 2020
von
Ozon, Z.
|
Alikasifoglu, A.
|
Kandemir, N.
| +12
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48
Risk factors for seizure recurrence in a pediatric observation unit
enthalten in:
The American journal of emergency medicine
| 2019
von
Gultekingil, A.
|
Teksam, O.
|
Haliloglu, G.
| +1
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49
Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis
enthalten in:
Annals of clinical and translational neurology
| 2019
von
Naumann, M.
|
Peikert, K.
|
Günther, R.
| +16
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50
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency
enthalten in:
Pediatric neurology
| 2019
von
Yıldız, Y.
|
Talim, B.
|
Haliloglu, G.
| +6
ErratumIn: Pediatr Neurol. 2019 Dec 6;:. - PMID 31818519
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The Turkish journal of pediatrics
12
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Neuromuscular disorders : NMD
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Journal of child neurology
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5
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146888-27-9
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4
Niemann-Pick disease type C
4
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101754-01-2
3
Amyoplasia congenita
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