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PubPharm (339)
1
Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model
enthalten in:
Clinical pharmacokinetics
| 2024
von
Qi, Y.
|
Chan, M.
|
Mould, D.
| +13
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2
Evaluating Sleep Disturbances in Children with Rare Genetic Neurodevelopmental Syndromes
enthalten in:
bioRxiv.org
| 2024
von
Veatch, O.
|
Malow, B.
|
Lee, H.
| +19
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3
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Dohrn, M.
|
Bademci, G.
|
Rebelo, A.
| +110
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4
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
enthalten in:
American journal of human genetics
| 2024
von
Paul, M.
|
Michener, S.
|
Pan, H.
| +60
ErratumFor: Am J Hum Genet. 2024 Jan 4;111(1):96-118. - PMID 38181735
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5
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing
enthalten in:
American journal of human genetics
| 2024
von
Li, S.
|
Zhao, S.
|
Sinson, J.
| +26
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6
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Ezell, K.
|
Tinker, R.
|
Furuta, Y.
| +110
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7
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Donkervoort, S.
|
Mohassel, P.
|
O'Leary, M.
| +121
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8
De novo variants in DENND5B cause a neurodevelopmental disorder
enthalten in:
American journal of human genetics
| 2024
von
Scala, M.
|
Tomati, V.
|
Ferla, M.
| +134
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9
Exome and genome sequencing in a heterogeneous population of patients with rare disease : Identifying predictors of a diagnosis
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Pucel, J.
|
Briere, L.
|
Reuter, C.
| +103
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10
Improving access to exome sequencing in a medically underserved population through the Texome Project
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Vuocolo, B.
|
German, R.
|
Lalani, S.
| +34
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American journal of human genetics
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11
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Brain : a journal of neurology
5
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4
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55
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intellectual disability
11
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10
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10
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10
developmental delay
8
DNA-Binding Proteins
8
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8
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7
Angelman syndrome
7
Drosophila
7
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neurodevelopmental disorder
6
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