Suchergebnisse - "MacLennan, Suzanna C"

PubPharm (20)

1

All Patients With a Cerebral Palsy Diagnosis Merit Genomic Sequencing

enthalten in: JAMA pediatrics | 2023

von van Eyk, C. | MacLennan, S. | MacLennan, A.

CommentOn: JAMA Pediatr. 2023 May 1;177(5):472-478. - PMID 36877506

2

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

enthalten in: Human mutation | 2022

von Scala, M. | Drouot, N. | MacLennan, S. | +28

3

Onasemnogene abeparvovec in spinal muscular atrophy : an Australian experience of safety and efficacy

enthalten in: Annals of clinical and translational neurology | 2022

von D'Silva, A. | Holland, S. | Kariyawasam, D. | +11

4

Onasemnogene abeparvovec in spinal muscular atrophy : an Australian experience of safety and efficacy

enthalten in: Annals of Clinical and Translational Neurology | 2022

von D'Silva, A. | Holland, S. | Kariyawasam, D. | +11

5

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

enthalten in: Human mutation | 2022

von Scala, M. | Drouot, N. | MacLennan, S. | +28

6

Author Correction : Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

enthalten in: Nature genetics | 2021

von Jin, S. | Lewis, S. | Bakhtiari, S. | +74

ErratumFor: Nat Genet. 2020 Oct;52(10):1046-1056. - PMID 32989326

7

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

enthalten in: Nature genetics | 2020

von Jin, S. | Lewis, S. | Bakhtiari, S. | +74

ErratumIn: Nat Genet. 2021 Mar;53(3):412. - PMID 33432185

8

Definition and diagnosis of cerebral palsy in genetic studies : a systematic review

enthalten in: Developmental medicine and child neurology | 2020

von Pham, R. | Mol, B. | Gecz, J. | +7

CommentIn: Dev Med Child Neurol. 2020 Sep;62(9):1006. - PMID 32597500

9

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

enthalten in: Human mutation | 2020

von Bryen, S. | Ewans, L. | Pinner, J. | +32

10

Definition and diagnosis of cerebral palsy in genetic studies : a systematic review

enthalten in: Developmental Medicine & Child Neurology | 2020

von Pham, R. | Mol, B. | Gecz, J. | +7