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PubPharm (30)
1
Epidemiology of type 1 diabetes mellitus in children and adolescents : A 50-year, single-center experience
enthalten in:
Journal of diabetes
| 2024
von
Kandemir, N.
|
Vuralli, D.
|
Ozon, A.
| +5
Wird geladen...
2
Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency
enthalten in:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
| 2024
von
Yıldız, Y.
|
Ardıçlı, D.
|
Göçmen, R.
| +5
Wird geladen...
3
High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy
enthalten in:
Annals of human genetics
| 2023
von
Çavdarlı, B.
|
Köken, .
|
Satılmış, S.
| +5
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4
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy
enthalten in:
Annals of Human Genetics
| 2023
von
Çavdarlı, B.
|
Köken, .
|
Satılmış, S.
| +5
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5
FXR1-related congenital myopathy : expansion of the clinical and genetic spectrum
enthalten in:
Journal of medical genetics
| 2022
von
Mroczek, M.
|
Longman, C.
|
Farrugia, M.
| +17
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6
Clinical and laboratory features of children with tremor : a single-center experience
enthalten in:
Acta neurologica Belgica
| 2022
von
Kocaman, G.
|
Ardıçlı, D.
|
Yılmaz, D.
Wird geladen...
7
Clinical and laboratory features of children with tremor: a single-center experience
enthalten in:
Acta neurologica Belgica
| 2021
von
Kocaman, G.
|
Ardıçlı, D.
|
Yılmaz, D.
Wird geladen...
8
Clinical and laboratory features of children with tremor: a single-center experience
enthalten in:
Acta neurologica Belgica
| 2021
von
Kocaman, G.
|
Ardıçlı, D.
|
Yılmaz, D.
Wird geladen...
9
Clinical and laboratory features of children with tremor: a single-center experience
enthalten in:
Acta neurologica Belgica
| 2021
von
Kocaman, G.
|
Ardıçlı, D.
|
Yılmaz, D.
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10
Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease : A tertiary center experience for determinants of diagnostic delay
enthalten in:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
| 2021
von
Ardicli, D.
|
Haliloglu, G.
|
Gocmen, R.
| +2
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30
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23
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7
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6
Neuropediatrics
4
Acta neurologica Belgica
3
The journal of pediatric endocrinology and meta...
2
American journal of human genetics
2
European journal of paediatric neurology : EJPN...
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Neuromuscular disorders : NMD
1
Annals of Clinical and Translational Neurology
1
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1
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1
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1
Epilepsy & behavior : E&B
1
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1
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1
Journal of diabetes
1
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1
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Thema
18
Journal Article
6
Research Support, Non-U.S. Gov't
5
Case Reports
4
Childhood
4
Classification
4
Essential tremor
4
Tremor
2
Creatine Kinase
2
EC 2.7.3.2
2
Epilepsy
2
Research Support, N.I.H., Extramural
1
101754-01-2
1
146888-27-9
1
ANO5 protein, human
1
Anoctamins
1
Ataxia
1
CD59 Antigens
1
CD59 protein, human
1
Cell Cycle Proteins
1
Cerebellar atrophy
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Erscheinungszeitraum
13
2020-
17
2010-2019
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25
Englisch
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