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PubPharm (128)
1
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy : implications for clinical trial design and mechanisms of disease progression
enthalten in:
Human molecular genetics
| 2024
von
Wong, C.
|
Friedman, S.
|
Snider, L.
| +13
UpdateOf: bioRxiv. 2023 Feb 20;:. - PMID 36865168
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2
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia
enthalten in:
Pediatric neurology
| 2023
von
Shelkowitz, E.
|
Stence, N.
|
Neuberger, I.
| +7
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3
Correction : Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Shelkowitz, E.
|
Saneto, R.
|
Al-Hertani, W.
| +10
ErratumFor: Orphanet J Rare Dis. 2022 Dec 5;17(1):423. - PMID 36471344
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4
Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Shelkowitz, E.
|
Saneto, R.
|
Al-Hertani, W.
| +10
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5
Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle: implications for clinical trial design
enthalten in:
bioRxiv.org
| 2023
von
Wong, C.
|
Friedman, S.
|
Snider, L.
| +13
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6
Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle : implications for clinical trial design
enthalten in:
bioRxiv : the preprint server for biology
| 2023
von
Wong, C.
|
Friedman, S.
|
Snider, L.
| +13
UpdateIn: Hum Mol Genet. 2024 Jan 24;:. - PMID 38268317
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7
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Shelkowitz, E.
|
Saneto, R.
|
Al-Hertani, W.
| +10
ErratumIn: Orphanet J Rare Dis. 2023 Mar 13;18(1):54. - PMID 36915141
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8
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Shelkowitz, E.
|
Saneto, R.
|
Al-Hertani, W.
| +10
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9
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
enthalten in:
Orphanet journal of rare diseases
| 2022
von
Shelkowitz, E.
|
Saneto, R.
|
Al-Hertani, W.
| +10
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10
Non-inferiority of a non-gadolinium-enhanced magnetic resonance imaging follow-up protocol for isolated optic pathway gliomas
enthalten in:
Pediatric radiology
| 2022
von
Maloney, E.
|
Perez, F.
|
Iyer, R.
| +6
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128
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Pediatric radiology
8
Neuroradiology
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Muscle & nerve
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Orphanet journal of rare diseases
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Nature medicine
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CardioVascular and interventional radiology
3
Pediatric neurology
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Radiology
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AJR. American journal of roentgenology
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American journal of human genetics
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BMC musculoskeletal disorders
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Journal of autism and developmental disorders
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NeuroImage
2
Neurology
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Prenatal diagnosis
2
Psychiatry research
2
Seminars in interventional radiology
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Thema
56
Journal Article
27
Children
22
Research Support, Non-U.S. Gov't
20
Magnetic resonance imaging
19
Research Support, N.I.H., Extramural
11
Interventional radiology
9
Gadolinium
9
Review
8
Glioma
8
Lumbar puncture
7
Pediatric
5
MRI
5
Neonate
4
Angio-Seal
4
Arterial access
4
Artery
4
Brain
4
Case Reports
4
Cerebrospinal fluid
4
Comparative Study
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Erscheinungszeitraum
109
2000-
11
1900-1999
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Sprache
106
Englisch
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