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PubPharm (46)
1
Long-Term Follow-Up Cares and Check Initiative : A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening
enthalten in:
International journal of neonatal screening
| 2024
von
Lietsch, M.
|
Chan, K.
|
Taylor, J.
| +11
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2
Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy
enthalten in:
Journal of neuromuscular diseases
| 2024
von
Zaidman, C.
|
Goedeker, N.
|
Aqul, A.
| +11
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3
Child Neurology : KMT2B-Related Dystonia in a Young Child With Worsening Gait Abnormality
enthalten in:
Neurology
| 2023
von
Schuberth, K.
|
Ramani, P.
|
Beemarajan, E.
| +1
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4
Estimate of the incidence of PANDAS and PANS in 3 primary care populations
enthalten in:
Frontiers in pediatrics
| 2023
von
Wald, E.
|
Eickhoff, J.
|
Flood, G.
| +7
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5
An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy
enthalten in:
Annals of clinical and translational neurology
| 2022
von
Kwon, J.
|
Arya, K.
|
Kuntz, N.
| +12
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6
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene
enthalten in:
Journal of investigative medicine high impact case reports
| 2022
von
Sharma, R.
|
Aravindhan, A.
|
Puente, C.
| +1
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7
Semaphorin-Plexin Signaling : From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
enthalten in:
Pediatric neurology
| 2022
von
Steele, J.
|
Morrow, M.
|
Sarnat, H.
| +24
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8
COVID-19 in Pediatric Inpatients : A Multi-Center Observational Study of Factors Associated with Negative Short-Term Outcomes
enthalten in:
Children (Basel, Switzerland)
| 2021
von
Rubenstein, S.
|
Grew, E.
|
Clouser, K.
| +5
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9
Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene
enthalten in:
Journal of clinical neuromuscular disease
| 2021
von
Dhasakeerthi, T.
|
Aravindhan, A.
|
Woodall, A.
| +2
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10
Molecular Dysregulation in Autism Spectrum Disorder
enthalten in:
Journal of personalized medicine
| 2021
von
Gill, P.
|
Clothier, J.
|
Veerapandiyan, A.
| +3
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Thema: Journal Article
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Muscle & nerve
5
Neurology
3
Epilepsy & behavior : E&B
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Journal of clinical neuromuscular disease
3
Neurology. Genetics
2
Child neurology open
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1
Acta paediatrica (Oslo, Norway : 1992)
1
American journal of medical genetics. Part A
1
Annals of clinical and translational neurology
1
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Children (Basel, Switzerland)
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1
European journal of medical genetics
1
Frontiers in pediatrics
1
International journal of neonatal screening
1
Journal of child neurology
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Thema
Journal Article
16
Case Reports
5
Review
4
Research Support, Non-U.S. Gov't
3
5Z9SP3X666
3
Oligonucleotides
3
Research Support, N.I.H., Extramural
3
SMA
3
nusinersen
2
9PHQ9Y1OLM
2
Antibodies
2
Anticonvulsants
2
CIDP
2
COVID-19
2
Glucocorticoids
2
Multicenter Study
2
Nerve Tissue Proteins
2
Prednisolone
2
ataxia
2
gene therapy
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Erscheinungszeitraum
22
2020-
24
2010-2019
Erscheinungsjahr(e)
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46
Englisch
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