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Inhibition of Interferon Gamma Production by Benzene and Benzene Metabolites23.
- Published in:
- JNCI: Journal of the National Cancer Institute, 1988, v. 80, n. 13, p. 1069
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- Publication type:
- Article
Cross-Cultural Differences in Attitude towards TV Advertising among Beijing, Hong Kong and Warwick Viewers.
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- International Journal of Integrated Marketing Communications, 2012, v. 4, n. 1, p. 43
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- Publication type:
- Article
'Stainomics': Identification of mitotracker labeled proteins in mammalian cells.
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- Electrophoresis, 2013, v. 34, n. 13, p. 1957, doi. 10.1002/elps.201200557
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- Article
Deciphering the complexity of simple chromosomal insertions by genome sequencing.
- Published in:
- Human Genetics, 2021, v. 140, n. 2, p. 361, doi. 10.1007/s00439-020-02210-x
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- Publication type:
- Article
Dementia in Australia: Clinical recommendations post‐diagnosis.
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- Australasian Journal on Ageing, 2024, v. 43, n. 2, p. 394, doi. 10.1111/ajag.13291
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- Publication type:
- Article
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.10782
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- Publication type:
- Article
Dermatological considerations for transgender and gender diverse patients: An Australian perspective.
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- Australasian Journal of Dermatology, 2024, v. 65, n. 1, p. 24, doi. 10.1111/ajd.14179
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- Publication type:
- Article
4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2540, doi. 10.1002/ajmg.a.37796
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- Publication type:
- Article
Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2737, doi. 10.1002/ajmg.a.37228
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- Publication type:
- Article
A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1842, doi. 10.1002/ajmg.a.37057
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- Publication type:
- Article
Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2953, doi. 10.1002/ajmg.a.35886
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- Publication type:
- Article
A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 841, doi. 10.1002/ajmg.a.35751
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- Publication type:
- Article
A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: Further delineation of a critical region for the 14q32 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1962, doi. 10.1002/ajmg.a.35289
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- Publication type:
- Article
Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action.
- Published in:
- Nature Medicine, 2014, v. 20, n. 7, p. 715, doi. 10.1038/nm.3580
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- Publication type:
- Article
Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3.
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- Nature Genetics, 2012, v. 44, n. 9, p. 1026, doi. 10.1038/ng.2367
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- Publication type:
- Article
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
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- Nature Genetics, 2012, v. 44, n. 6, p. 639, doi. 10.1038/ng.2262
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- Publication type:
- Article
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
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- Nature Genetics, 2011, v. 43, n. 11, p. 1074, doi. 10.1038/ng.944
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- Publication type:
- Article
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
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- Nature Genetics, 2009, v. 41, n. 12, p. 1269, doi. 10.1038/ng.481
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- Publication type:
- Article
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
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- Nature Genetics, 2008, v. 40, n. 6, p. 719, doi. 10.1038/ng.158
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- Publication type:
- Article
Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions.
- Published in:
- 2011
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- Publication type:
- journal article
Exclusion of chromosomal mosaicism in amniotic fluid cultures: determination of number of colonies needed for accurate analysis.
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- 1994
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- Publication type:
- journal article
Correlation between phenotypic expression of de novo marker chromosomes and genomic organization using replicational banding.
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- 1990
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- Publication type:
- journal article
Exclusion of chromosomal mosaicism in amniotic fluid cultures: efficacy of in situ versus flask techniques.
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- 1990
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- Publication type:
- journal article
Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14.
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- 1988
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- Publication type:
- journal article
First trimester chorionic villus sampling versus mid-trimester genetic amniocentesis--preliminary results of a controlled prospective trial.
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- 1988
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- Publication type:
- journal article
An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue.
- Published in:
- Prenatal Diagnosis, 1988, v. 8, n. 2, p. 119, doi. 10.1002/pd.1970080206
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- Publication type:
- Article
Chromosome mosaicism and maternal cell contamination in chorionic villi.
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- Prenatal Diagnosis, 1987, v. 7, n. 8, p. 535, doi. 10.1002/pd.1970070802
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- Publication type:
- Article
A simple method for preparing prometaphase chromosomes from amniotic fluid cell cultures.
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- Prenatal Diagnosis, 1987, v. 7, n. 6, p. 383, doi. 10.1002/pd.1970070602
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- Publication type:
- Article
Genotype, Phenotype, and Karyotype Correlation in the XO Mouse Model of Turner Syndrome.
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- Journal of Heredity, 2008, v. 99, n. 5, p. 512, doi. 10.1093/jhered/esn027
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- Publication type:
- Article
Anti-Atherogenic Effect of Hydrogen Sulfide by Over-Expression of Cystathionine Gamma-Lyase (CSE) Gene.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0113038
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- Publication type:
- Article
Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1.
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- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107028
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- Publication type:
- Article
Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085600
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- Publication type:
- Article
Differential Actions of Chlorhexidine on the Cell Wall of Bacillus subtilis and Escherichia coli.
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- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0036659
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- Publication type:
- Article
Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development.
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- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0015392
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- Publication type:
- Article
The Use of Aldosterone-Renin Ratio as a Diagnostic Test for Primary Hyperaldosteronism and Its Test Characteristics under Different Conditions of Blood Sampling.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 1, p. 72, doi. 10.1210/jc.2004-1149
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- Publication type:
- Article
Serum Adiponectin Is Reduced in Acromegaly and Normalized after Correction of Growth Hormone Excess.
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- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 11, p. 5448, doi. 10.1210/jc.2003-032023
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- Publication type:
- Article
Increased Bone Mineral Density in Patients with Chronic Hypoparathyroidism.
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3155, doi. 10.1210/jc.2002-021388
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- Publication type:
- Article
Single-digit cold-induced vasodilation adaptations during an Antarctic expedition.
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- Polar Biology, 2020, v. 43, n. 5, p. 555, doi. 10.1007/s00300-020-02659-6
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- Publication type:
- Article
Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.
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- Birth Defects Research, 2018, v. 110, n. 4, p. 364, doi. 10.1002/bdr2.1146
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- Publication type:
- Article
Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility.
- Published in:
- Journal of the Endocrine Society, 2020, v. 4, n. 2, p. N.PAG, doi. 10.1210/jendso/bvz016
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- Publication type:
- Article
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
- Published in:
- Human Genetics, 2017, v. 136, n. 4, p. 377, doi. 10.1007/s00439-017-1763-1
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- Article
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.
- Published in:
- Human Genetics, 2015, v. 134, n. 11/12, p. 1163, doi. 10.1007/s00439-015-1594-x
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- Publication type:
- Article
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
- Published in:
- Human Genetics, 2012, v. 131, n. 12, p. 1895, doi. 10.1007/s00439-012-1216-9
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- Publication type:
- Article
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
- Published in:
- Human Genetics, 2009, v. 126, n. 4, p. 589, doi. 10.1007/s00439-009-0706-x
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- Publication type:
- Article
Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 ( DAX1).
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- Human Genetics, 2007, v. 122, n. 1, p. 63, doi. 10.1007/s00439-007-0373-8
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- Publication type:
- Article
Evidence for involvement of TRE-2 ( USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.
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- Human Genetics, 2006, v. 120, n. 2, p. 227, doi. 10.1007/s00439-006-0200-7
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- Publication type:
- Article
Verbal Short-Term Memory Disturbance in the Primary Progressive Aphasias: Challenges and Distinctions in a Clinical Setting.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 8, p. 1060, doi. 10.3390/brainsci11081060
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- Article
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07193-y
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- Publication type:
- Article
The Acceptability and Usefulness of Positive Behaviour Support Education for Family Carers of People With Frontotemporal Dementia: A Pilot Study.
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- Journal of Geriatric Psychiatry & Neurology, 2023, v. 36, n. 1, p. 73, doi. 10.1177/08919887221090214
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- Article
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 915, doi. 10.1038/ejhg.2014.217
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- Publication type:
- Article