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PubPharm (97)
1
Atypical Mowat-Wilson Syndrome : Dystonia, Choreoathetosis and Cognitive Features
enthalten in:
Movement disorders clinical practice
| 2024
von
Nou-Fontanet, L.
|
Martí-Sánchez, L.
|
Martorell, L.
| +2
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2
Improving Diagnostic Precision : Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
enthalten in:
Journal of neuromuscular diseases
| 2024
von
Estévez-Arias, B.
|
Matalonga, L.
|
Martorell, L.
| +13
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3
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function
enthalten in:
Annals of neurology
| 2023
von
Domínguez-Carral, J.
|
Ludlam, W.
|
Junyent Segarra, M.
| +31
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4
Advanced Optical Microscopy : Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype
enthalten in:
International journal of molecular sciences
| 2023
von
Roldán, M.
|
Nolasco, G.
|
Armengol, L.
| +10
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5
Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome
enthalten in:
Movement disorders clinical practice
| 2023
von
Nou-Fontanet, L.
|
García-Navas, D.
|
Gómez-Martín, H.
| +2
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6
Syngeneic hematopoietic stem cell transplantation after mobilization failure in an adolescent with intracranial germ cell tumor
enthalten in:
Pediatric blood & cancer
| 2023
von
Sánchez-Sierra, N.
|
Perez-Somarriba, M.
|
Santa-Maria, V.
| +6
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7
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome : A case report
enthalten in:
Clinical case reports
| 2023
von
Amato, M.
|
Ricart, S.
|
Vicente, M.
| +8
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8
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
enthalten in:
Acta neuropathologica
| 2023
von
Nascimento, A.
|
Bruels, C.
|
Donkervoort, S.
| +31
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9
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
enthalten in:
Acta neuropathologica
| 2023
von
Nascimento, A.
|
Bruels, C.
|
Donkervoort, S.
| +31
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10
Adequacy of the 10 mg/kg Daily Dose of Antituberculosis Drug Isoniazid in Infants under 6 Months of Age
enthalten in:
Antibiotics (Basel, Switzerland)
| 2023
von
López-Ramos, M.
|
Vinent, J.
|
Aarnoutse, R.
| +19
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American journal of medical genetics. Part A
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3
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3
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3
EC 2.7.11.1
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3
Fibromyalgia, chronic pain
3
Genetic Modifier
3
Genetic counseling
3
Joubert Syndrome
3
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3
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