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Complications of external cephalic version: a retrospective analysis of 1121 patients at a tertiary hospital in Sydney.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Comprehensive comparison of stroke risk score performance: a systematic review and meta-analysis among 6 267 728 patients with atrial fibrillation.
- Published in:
- 2022
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- Publication type:
- journal article
Ultrasound features prior to 11 weeks' gestation and first-trimester maternal factors in prediction of hypertensive disorders of pregnancy.
- Published in:
- 2020
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- Publication type:
- journal article
Abstracts of the 26th World Congress on Ultrasound in Obstetrics and Gynecology, Rome, Italy, 24-28 September 2016.
- Published in:
- 2016
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- Publication type:
- journal article
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.
- Published in:
- Human Genetics, 2017, v. 136, n. 2, p. 179, doi. 10.1007/s00439-016-1743-x
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- Publication type:
- Article
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.
- Published in:
- Human Genetics, 2007, v. 121, n. 6, p. 697, doi. 10.1007/s00439-007-0359-6
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- Publication type:
- Article
Fragile X syndrome: diagnosis, treatment and research: Randi Jenssen Hagerman, Paul J Hagerman (eds) John Hopkins University Press, ISBN 0-8018-6843-2 (hardcover) £ 65.50; ISBN 0-8018-6844-0 (paperback) £ 31.00.
- Published in:
- 2003
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- Publication type:
- Book Review
Pilot Study on the Erosion and Rehabilitation of a Mangrove Mud Coast.
- Published in:
- Journal of Coastal Research, 2005, v. 21, n. 2, p. 223, doi. 10.2112/03-832A
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- Publication type:
- Article
Recurrent Selection for Seedling Growth of Sweet Corn in Cool Temperatures.
- Published in:
- Crop Science, 2014, v. 54, n. 3, p. 1033, doi. 10.2135/cropsci2013.05.0344
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- Publication type:
- Article
Identical psychological profile and behaviour pattern in different types of mutation in the FMR-1 region.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 6, p. 326, doi. 10.1111/j.1399-0004.1993.tb03830.x
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- Publication type:
- Article
Shared genetic factors in migraine and depression: Evidence from a genetic isolate.
- Published in:
- 2010
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- Publication type:
- Abstract
Multi-centre, randomised non-inferiority trial of early treatment versus expectant management of patent ductus arteriosus in preterm infants (the BeNeDuctus trial): statistical analysis plan.
- Published in:
- 2021
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- Publication type:
- journal article
Evidence for activation of histamine H<sub>3</sub> autoreceptors during handling stress in the prefrontal cortex of the rat.
- Published in:
- Synapse, 2002, v. 43, n. 4, p. 238, doi. 10.1002/syn.10043
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- Publication type:
- Article
Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 2, p. 310
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- Publication type:
- Article
Reducing medical device alarms by an order of magnitude: A human factors approach.
- Published in:
- 2021
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- Publication type:
- journal article
Treatment of Grade 2 and 3 Hemorrhoids with Doppler-Guided Hemorrhoidal Artery Ligation.
- Published in:
- Digestive Surgery, 2007, v. 24, n. 6, p. 436, doi. 10.1159/000108326
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- Publication type:
- Article
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes.
- Published in:
- Human Genetics, 2024, v. 143, n. 6, p. 761, doi. 10.1007/s00439-024-02679-w
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- Publication type:
- Article
The Human Phenotype Ontology in 2017.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D865, doi. 10.1093/nar/gkw1039
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- Publication type:
- Article
Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Investigating the Magmatic Plumbing System of a Monogenetic Scoria Cone: A Field and Laboratory Study of the Cienega Scoria Cone, Cerros del Rio Volcanic Field, New Mexico.
- Published in:
- Geochemistry, Geophysics, Geosystems: G3, 2018, v. 19, n. 7, p. 1963, doi. 10.1029/2017GC007222
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- Publication type:
- Article
Using benchmarking to identify inter-centre differences in persistent ductus arteriosus treatment: can we improve outcome?
- Published in:
- 2017
- By:
- Publication type:
- journal article
De novo variants in <italic>CDK13</italic> associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 5, p. 1000, doi. 10.1111/cge.13225
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- Publication type:
- Article
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.
- Published in:
- Clinical Genetics, 2011, v. 79, n. 3, p. 296, doi. 10.1111/j.1399-0004.2010.01544.x
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- Publication type:
- Article
A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 434, doi. 10.1111/j.1399-0004.2008.01087.x
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- Publication type:
- Article
Two novel functional mutations in the Na<sup>+</sup>,K<sup>+</sup>-ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 37, doi. 10.1111/j.1399-0004.2007.00918.x
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- Publication type:
- Article
Pure subtelomeric microduplications as a cause of mental retardation.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 4, p. 362, doi. 10.1111/j.1399-0004.2007.00874.x
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- Publication type:
- Article
Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.
- Published in:
- 2005
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- Publication type:
- Letter
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).
- Published in:
- Clinical Genetics, 2004, v. 66, n. 4, p. 318, doi. 10.1111/j.1399-0004.2004.00308.x
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- Publication type:
- Article
Short Report The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 3, p. 226, doi. 10.1111/j.0009-9163.2004.00215.x
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- Publication type:
- Article
Enhancing intestinal anastomotic healing using butyrate: Systematic review and meta-analysis of experimental animal studies.
- Published in:
- PLoS ONE, 2023, v. 17, n. 6, p. 1, doi. 10.1371/journal.pone.0286716
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- Publication type:
- Article
Scientific Creativity: Divergent and Convergent Thinking and the Impact of Culture.
- Published in:
- Journal of Creative Behavior, 2019, v. 53, n. 2, p. 145, doi. 10.1002/jocb.184
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- Publication type:
- Article
Results of open pararenal abdominal aortic aneurysm repair: single centre series and pooled analysis of literature.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Genetic variants and expression changes in urgency urinary incontinence: A systematic review.
- Published in:
- Neurourology & Urodynamics, 2020, v. 39, n. 8, p. 2089, doi. 10.1002/nau.24512
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- Publication type:
- Article
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 6, p. 559, doi. 10.1002/(SICI)1097-0223(199906)19:6<559::AID-PD587>3.0.CO;2-8
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- Publication type:
- Article
Outcomes and Patency of Endovascular Infrapopliteal Reinterventions in Patients With Chronic Limb-Threatening Ischemia.
- Published in:
- Journal of Endovascular Therapy, 2024, v. 31, n. 5, p. 831, doi. 10.1177/15266028221147457
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- Publication type:
- Article
Short-term Results of the RAPID Randomized Trial of the Legflow Paclitaxel-Eluting Balloon With Supera Stenting vs Supera Stenting Alone for the Treatment of Intermediate and Long Superficial Femoral Artery Lesions.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The Genetics of Intellectual Disability.
- Published in:
- Brain Sciences (2076-3425), 2023, v. 13, n. 2, p. 231, doi. 10.3390/brainsci13020231
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- Publication type:
- Article
The fragile-X syndrome: a growing gene causing familial intellectual disability.
- Published in:
- Journal of Intellectual Disability Research, 1994, v. 38, n. 1, p. 1, doi. 10.1111/j.1365-2788.1994.tb00342.x
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- Publication type:
- Article
A patient with progressive dyspnoea.
- Published in:
- Netherlands Heart Journal, 2015, v. 23, n. 7/8, p. 399, doi. 10.1007/s12471-015-0718-1
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- Publication type:
- Article
Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1689, doi. 10.1038/ejhg.2015.42
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- Publication type:
- Article
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 166, doi. 10.1038/ejhg.2011.157
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- Publication type:
- Article
Homozygosity mapping in outbred families with mental retardation.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 597, doi. 10.1038/ejhg.2010.167
- By:
- Publication type:
- Article
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 395, doi. 10.1038/sj.ejhg.5201975
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- Publication type:
- Article
3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism.
- Published in:
- 2007
- By:
- Publication type:
- Proceeding
Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 9, p. 930, doi. 10.1038/sj.ejhg.5201865
- By:
- Publication type:
- Article
A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 743, doi. 10.1038/sj.ejhg.5201833
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- Publication type:
- Article
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1019, doi. 10.1038/sj.ejhg.5201456
- By:
- Publication type:
- Article
Osteoblast-osteoclast co-cultures: A systematic review and map of available literature.
- Published in:
- PLoS ONE, 2021, v. 16, n. 11, p. 1, doi. 10.1371/journal.pone.0257724
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- Publication type:
- Article
Hummocks: how they form and how they evolve in rockslide-debris avalanches.
- Published in:
- Landslides, 2014, v. 11, n. 1, p. 67, doi. 10.1007/s10346-012-0368-y
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- Publication type:
- Article