Found: 30
Select item for more details and to access through your institution.
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.
- Published in:
- Molecular Diagnosis & Therapy, 2020, v. 24, n. 6, p. 641, doi. 10.1007/s40291-020-00495-2
- By:
- Publication type:
- Article
Alzheimer's disease and apolipoprotein E genotype in Western Australia: an autopsy-verified series.
- Published in:
- 1996
- By:
- Publication type:
- journal article
Clinical utility gene card for: Nemaline myopathy - update 2015.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1, doi. 10.1038/ejhg.2015.12
- By:
- Publication type:
- Article
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
- Published in:
- 2020
- By:
- Publication type:
- journal article
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 3, p. 353, doi. 10.1002/acn3.51002
- By:
- Publication type:
- Article
Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity.
- Published in:
- Brain & Behavior, 2018, v. 8, n. 4, p. 1, doi. 10.1002/brb3.919
- By:
- Publication type:
- Article
Establishment and characterization of five human malignant mesothelioma cell lines derived from pleural effusions.
- Published in:
- International Journal of Cancer, 1991, v. 47, n. 2, p. 285, doi. 10.1002/ijc.2910470219
- By:
- Publication type:
- Article
Clinical utility gene card for: Nemaline myopathy.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 1, doi. 10.1038/ejhg.2012.70
- By:
- Publication type:
- Article
Freedom of Information in the Internet Age: Assessment Rolls, Data, and Privacy.
- Published in:
- Journal of Property Tax Assessment & Administration, 2007, v. 4, n. 4, p. 13
- By:
- Publication type:
- Article
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 13, doi. 10.1111/cge.14533
- By:
- Publication type:
- Article
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1250, doi. 10.1002/acn3.52041
- By:
- Publication type:
- Article
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24852-9
- By:
- Publication type:
- Article
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
- Published in:
- Cerebellum, 2024, v. 23, n. 1, p. 268, doi. 10.1007/s12311-023-01522-8
- By:
- Publication type:
- Article
Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 7, p. 1, doi. 10.1111/nan.12846
- By:
- Publication type:
- Article
A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 1, p. 1, doi. 10.1111/nan.12743
- By:
- Publication type:
- Article
High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Retrospective analysis of mortality within 30 days of systemic anticancer therapy and comparison with a previous audit at an Australian Regional Cancer Centre.
- Published in:
- Journal of Oncology Pharmacy Practice, 2022, v. 28, n. 5, p. 1077, doi. 10.1177/10781552211016086
- By:
- Publication type:
- Article
Dosing of PD-1 and PD-L1 inhibitors: Cost saving initiatives for significantly decreasing associated expenditure.
- Published in:
- Journal of Oncology Pharmacy Practice, 2021, v. 27, n. 1, p. 199, doi. 10.1177/1078155220974077
- By:
- Publication type:
- Article
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
- Published in:
- Brain Communications, 2023, v. 5, n. 4, p. 1, doi. 10.1093/braincomms/fcad208
- By:
- Publication type:
- Article
Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping.
- Published in:
- Human Mutation, 2009, v. 30, n. 1, p. 22, doi. 10.1002/humu.20806
- By:
- Publication type:
- Article
Cerebral palsy is not a diagnosis: A case report of a novel atlastin-1 mutation.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Expanding the phenotype of GMPPB mutations.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 4, p. 836, doi. 10.1093/brain/awv013
- By:
- Publication type:
- Article
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
- Published in:
- Human Mutation, 2020, v. 41, n. 11, p. 1884, doi. 10.1002/humu.24101
- By:
- Publication type:
- Article
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <italic>TNNT3</italic> splice variant.
- Published in:
- Human Mutation, 2018, v. 39, n. 3, p. 383, doi. 10.1002/humu.23385
- By:
- Publication type:
- Article
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1127, doi. 10.1093/hmg/ddac272
- By:
- Publication type:
- Article
Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1846, doi. 10.1002/ajmg.a.36342
- By:
- Publication type:
- Article
Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.
- Published in:
- Muscle & Nerve, 2010, v. 41, n. 3, p. 412, doi. 10.1002/mus.21610
- By:
- Publication type:
- Article
Relative Discriminability of Heartbeat-Contingent Stimuli Under Three Procedures for Assessing Cardiac Perception.
- Published in:
- Psychophysiology, 1986, v. 23, n. 1, p. 76, doi. 10.1111/j.1469-8986.1986.tb00598.x
- By:
- Publication type:
- Article