Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
SJ Beecroft, KS Yau, RJN Allcock… - Annals of Clinical …, 2020 - Wiley Online Library
Objective To develop, test, and iterate a comprehensive neuromuscular targeted gene panel
in a national referral center. Methods We designed two iterations of a comprehensive …
in a national referral center. Methods We designed two iterations of a comprehensive …
Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy
RW Ong, A AlSaman, D Selcen, A Arabshahi… - Journal of Neurology …, 2014 - jnnp.bmj.com
Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy | Journal of
Neurology, Neurosurgery & Psychiatry Skip to main content Viewing from: Google Indexer BMJ …
Neurology, Neurosurgery & Psychiatry Skip to main content Viewing from: Google Indexer BMJ …
[HTML][HTML] Expanding clinical presentations due to variations in THOC2 mRNA nuclear export factor
R Kumar, E Palmer, AE Gardner, R Carroll… - Frontiers in Molecular …, 2020 - frontiersin.org
Multiple TREX mRNA export complex subunits (eg, THOC1, THOC2, THOC5, THOC6,
THOC7) have now been implicated in neurodevelopmental disorders (NDDs) …
THOC7) have now been implicated in neurodevelopmental disorders (NDDs) …
Novel CHKB mutation expands the megaconial muscular dystrophy phenotype
M Cabrera‐Serrano, RC Junckerstorff… - Muscle & …, 2015 - Wiley Online Library
Introduction: Mutations in the choline kinase beta (CHKB) gene are associated with a
congenital muscular dystrophy with giant mitochondria at the periphery of muscle fibers …
congenital muscular dystrophy with giant mitochondria at the periphery of muscle fibers …
Silver Russel syndrome in an aboriginal patient from Australia
C Poulton, D Azmanov, V Atkinson… - American journal of …, 2018 - Wiley Online Library
Silver‐Russell syndrome (SRS OMIM 180860) is a rare, albeit well‐recognized disorder
characterized by severe intrauterine and postnatal growth retardation. It remains a clinical …
characterized by severe intrauterine and postnatal growth retardation. It remains a clinical …
Studying Disease-Associated UBE3A Missense Variants Using Enhanced Sampling Molecular Simulations
M Agostino, F McKenzie, C Buck, KJ Woodward… - ACS …, 2022 - ACS Publications
Missense variants in UBE3A underlie neurodevelopmental conditions such as Angelman
Syndrome and Autism Spectrum Disorder, but the underlying molecular pathological …
Syndrome and Autism Spectrum Disorder, but the underlying molecular pathological …
[CITATION][C] Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1
CP Barnett, EJ Todd, R Ong, MR Davis… - American Journal of …, 2014 - Wiley Online Library
Distal arthrogryposis (DA) is a group of conditions characterised by congenital contractures
involving the hands, feet, wrists, and ankles. Most types of DA follow autosomal dominant …
involving the hands, feet, wrists, and ankles. Most types of DA follow autosomal dominant …
[CITATION][C] Options for Quarantine Waste Treatment at Auckland International Airport
S Connor, A Watson, V Atkinson - 2007 - Manukau City Council
[CITATION][C] New Zealand Energy Revolution: How to Prevent Climate Chaos
P Freeman, V Atkinson, S Teske - 2007 - Greenpeace Aotearoa/New Zealand
[CITATION][C] New Zealand Energy Revolution-How to prevent climate chaos
S Teske, W Krewitt, S Kronshage, P Freeman… - revolution-Report: New …, 2007 - elib.dlr.de
electronic library - New Zealand Energy Revolution - How to prevent climate chaos elib DLR-Header
DLR-Logo -> http://www.dlr.de DLR Portal Home | Impressum | Datenschutz | Kontakt …
DLR-Logo -> http://www.dlr.de DLR Portal Home | Impressum | Datenschutz | Kontakt …