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PubPharm (142)
1
Predictors of Clinically Important Neuroimaging Findings in Children Presenting Pediatric Emergency Department
enthalten in:
Pediatric emergency care
| 2024
von
Gungor, E.
|
Haliloglu, G.
|
Yalnizoglu, D.
| +2
Wird geladen...
2
The recurrent deep intronic pseudoexon-inducing variant
COL6A1
c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
enthalten in:
bioRxiv.org
| 2024
von
Foley, A.
|
Bolduc, V.
|
Guirguis, F.
| +66
Wird geladen...
3
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy : Towards clinical trial readiness for splice-modulating therapy
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Foley, A.
|
Bolduc, V.
|
Guirguis, F.
| +66
Wird geladen...
4
European Joint Programme on Rare Diseases workshop : LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain
enthalten in:
Neuromuscular disorders : NMD
| 2024
von
Smeets, H.
|
Verbrugge, B.
|
Bulbena, X.
| +47
Wird geladen...
5
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Weisburd, B.
|
Sharma, R.
|
Pata, V.
| +23
Wird geladen...
6
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets
enthalten in:
bioRxiv.org
| 2024
von
Weisburd, B.
|
Sharma, R.
|
Pata, V.
| +23
Wird geladen...
7
Delineation of ADPRHL2 Variants : Report of Two New Patients with Review of the Literature
enthalten in:
Neuropediatrics
| 2024
von
Öz Yıldız, S.
|
Yalnızoğlu, D.
|
Şimsek Kiper, P.
| +4
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8
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
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9
Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias : Reflections from Turkey
enthalten in:
Molecular genetics and metabolism
| 2024
von
Ersak, A.
|
Çak, H.
|
Yıldız, Y.
| +7
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10
Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia
enthalten in:
Journal of proteome research
| 2023
von
Cengiz Winter, N.
|
Karakaya, M.
|
Mosen, P.
| +5
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Sprache: Englisch
Medienart
141
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Zeitschriftentitel
15
The Turkish journal of pediatrics
12
European journal of pediatrics
10
Neuromuscular disorders : NMD
9
Neuropediatrics
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Pediatric radiology
7
European journal of paediatric neurology : EJPN...
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Journal of child neurology
6
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4
Journal of clinical immunology
4
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Orphanet journal of rare diseases
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2
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Molecular genetics and metabolism
2
Seminars in arthritis and rheumatism
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88
Journal Article
36
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25
Research Support, Non-U.S. Gov't
7
MRI
6
Muscle Proteins
6
Research Support, N.I.H., Extramural
5
Review
4
146888-27-9
4
B cells
4
Cholestasis
4
Dystroglycans
4
Inflammatory cells
4
JDM
4
Lysosomal storage disease
4
Muscle biopsy
4
Neonatal onset
4
Niemann-Pick disease type C
4
T cells
3
101754-01-2
3
Amyoplasia congenita
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Erscheinungszeitraum
43
2020-
69
2010-2019
25
2000-2009
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