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Cross‐Peaks in Simple Two‐Dimensional NMR Experiments from Chemical Exchange of Transverse Magnetisation.
- Published in:
- Angewandte Chemie, 2019, v. 131, n. 26, p. 8876, doi. 10.1002/ange.201903245
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- Publication type:
- Article
An intrinsic temporal order of c-JUN N-terminal phosphorylation regulates its activity by orchestrating co-factor recruitment.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33866-w
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- Publication type:
- Article
Author Correction: Modulating co-translational protein folding by rational design and ribosome engineering.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Modulating co-translational protein folding by rational design and ribosome engineering.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31906-z
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- Publication type:
- Article
Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.
- Published in:
- 2017
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- Publication type:
- journal article
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
- Published in:
- 2013
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- Publication type:
- journal article
The collective burden of childhood dementia: a scoping review.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4446, doi. 10.1093/brain/awad242
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- Publication type:
- Article
Reply: Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
- Published in:
- 2022
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- Publication type:
- Editorial
Reply: Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
- Published in:
- 2020
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- Publication type:
- Letter
Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.
- Published in:
- 2020
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- Publication type:
- Letter
Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.
- Published in:
- 2020
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- Publication type:
- Letter
Childhood dementia: the collective impact and opportunities for intervention.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.082583
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- Publication type:
- Article
Morphology-Dependent Interactions between α-Synuclein Monomers and Fibrils.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5191, doi. 10.3390/ijms24065191
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- Publication type:
- Article
Archaeal MBF1 binds to 30S and 70S ribosomes via its helix-turn-helix domain.
- Published in:
- Biochemical Journal, 2014, v. 462, n. 2, p. 373, doi. 10.1042/BJ20131474
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- Publication type:
- Article
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 2020, doi. 10.3390/jcm8112020
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- Publication type:
- Article
Biophysical Interactions Underpin the Emergence of Information in the Genetic Code.
- Published in:
- Life (2075-1729), 2023, v. 13, n. 5, p. 1129, doi. 10.3390/life13051129
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- Publication type:
- Article
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.
- Published in:
- 2010
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- Publication type:
- journal article
MECP2 genomic structure and function: insights from ENCODE.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 19, p. 6035, doi. 10.1093/nar/gkn591
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- Publication type:
- Article
Nascent chains can form co-translational folding intermediates that promote post-translational folding outcomes in a disease-causing protein.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26531-1
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- Publication type:
- Article
Spontaneous assembly of redox-active iron-sulfur clusters at low concentrations of cysteine.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26158-2
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- Publication type:
- Article
Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?
- Published in:
- Pharmacogenomics & Personalized Medicine, 2023, v. 16, p. 681, doi. 10.2147/PGPM.S376083
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- Publication type:
- Article
Trimethylaminuria: An under-recognised and socially debilitating metabolic disorder.
- Published in:
- Journal of Paediatrics & Child Health, 2012, v. 48, n. 3, p. E153, doi. 10.1111/j.1440-1754.2010.01978.x
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- Publication type:
- Article
Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome.
- Published in:
- Journal of Paediatrics & Child Health, 2009, v. 45, n. 7/8, p. 469, doi. 10.1111/j.1440-1754.2009.01537.x
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- Publication type:
- Article
A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1599, doi. 10.1002/ajmg.a.63170
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- Publication type:
- Article
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1576, doi. 10.1002/ajmg.a.61615
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- Publication type:
- Article
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2246, doi. 10.1002/ajmg.a.38292
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- Publication type:
- Article
Functional abilities in children and adults with the CDKL5 disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2860, doi. 10.1002/ajmg.a.37851
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- Publication type:
- Article
Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 713, doi. 10.1002/ajmg.a.34206
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- Publication type:
- Article
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 455, doi. 10.1002/ajmg.a.34428
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- Publication type:
- Article
Two-Dimensional NMR Lineshape Analysis.
- Published in:
- Scientific Reports, 2016, p. 24826, doi. 10.1038/srep24826
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- Publication type:
- Article
Rapid Identification of a Novel Complex I <i>MT-ND3 </i>m.10134C>A Mutation in a Leigh Syndrome Patient.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104879
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- Publication type:
- Article
In-Cell NMR Characterization of the Secondary Structure Populations of a Disordered Conformation of α-Synuclein within <i>E. coli</i> Cells.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0072286
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- Publication type:
- Article
Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study.
- Published in:
- 2016
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- Publication type:
- journal article
Two-dimensional NMR lineshape analysis of single, multiple, zero and double quantum correlation experiments.
- Published in:
- Journal of Biomolecular NMR, 2020, v. 74, n. 1, p. 95, doi. 10.1007/s10858-019-00297-7
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- Publication type:
- Article
Increasing the sensitivity of NMR diffusion measurements by paramagnetic longitudinal relaxation enhancement, with application to ribosome-nascent chain complexes.
- Published in:
- Journal of Biomolecular NMR, 2015, v. 63, n. 2, p. 151, doi. 10.1007/s10858-015-9968-x
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- Publication type:
- Article
Analysis of conformational exchange processes using methyl-TROSY-based Hahn echo measurements of quadruple-quantum relaxation.
- Published in:
- Magnetic Resonance, 2021, v. 2, n. 2, p. 777, doi. 10.5194/mr-2-777-2021
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- Publication type:
- Article
Dhavendra Kumar and Charis Eng (eds): Genomic Medicine: Principles and Practice (Oxford Monographs on Medical Genetics) 2nd Edition.
- Published in:
- 2015
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- Publication type:
- Book Review
A novel transcript of cyclin-dependent kinase-like 5 ( CDKL5) has an alternative C-terminus and is the predominant transcript in brain.
- Published in:
- Human Genetics, 2012, v. 131, n. 2, p. 187, doi. 10.1007/s00439-011-1058-x
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- Publication type:
- Article
Ethically utilising COVID-19 host-genomic data.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00194-9
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- Publication type:
- Article
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
- Published in:
- Internal Medicine Journal, 2022, v. 52, n. 1, p. 110, doi. 10.1111/imj.15505
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- Publication type:
- Article
Bayesian reweighting of biomolecular structural ensembles using heterogeneous cryo-EM maps with the cryoENsemble method.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-68468-7
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- Publication type:
- Article
Bayesian reweighting of biomolecular structural ensembles using heterogeneous cryo-EM maps with the cryoENsemble method.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-68468-7
- By:
- Publication type:
- Article
Genome-wide linkage of obstructive sleep apnoea and high-density lipoprotein cholesterol in a Filipino family: bivariate linkage analysis of obstructive sleep apnoea.
- Published in:
- Journal of Sleep Research, 2010, v. 19, n. 2, p. 349, doi. 10.1111/j.1365-2869.2009.00797.x
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- Publication type:
- Article
There is variability in the attainment of developmental milestones in the CDKL5 disorder.
- Published in:
- Journal of Neurodevelopmental Disorders, 2015, v. 7, n. 1, p. 35, doi. 10.1186/1866-1955-7-2
- By:
- Publication type:
- Article
There is variability in the attainment of developmental milestones in the CDKL5 disorder.
- Published in:
- Journal of Neurodevelopmental Disorders, 2015, v. 7, n. 1, p. 1, doi. 10.1186/1866-1955-7-2
- By:
- Publication type:
- Article
Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1171, doi. 10.1038/ejhg.2014.249
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- Publication type:
- Article
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 522, doi. 10.1038/ejhg.2012.208
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- Publication type:
- Article
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 266, doi. 10.1038/ejhg.2012.156
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- Publication type:
- Article
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1218, doi. 10.1038/sj.ejhg.5201911
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- Publication type:
- Article
Rett syndrome: new clinical and molecular insights.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 8, p. 896, doi. 10.1038/sj.ejhg.5201580
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- Publication type:
- Article