Found: 31
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Two Cases of Scimitar Syndrome Associated with Multiple Congenital Skeletal Anomalies and Lacking Abnormalities by Genomic Microarray Analysis.
- Published in:
- 2014
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- Publication type:
- Case Study
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.
- Published in:
- 2020
- By:
- Publication type:
- Abstract
Phenotypic variations between a fat-preferring strain and a macronutrient non-preferring strain of mouse.
- Published in:
- Diabetes, Obesity & Metabolism, 2006, v. 8, n. 3, p. 302, doi. 10.1111/j.1463-1326.2005.00506.x
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- Publication type:
- Article
Wolf-Hirschhorn syndrome: A review and update.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 3, p. 216, doi. 10.1002/ajmg.c.31449
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- Publication type:
- Article
Allergic bronchopulmonary aspergillosis in cystic fibrosis.
- Published in:
- Journal of Paediatrics & Child Health, 1982, v. 18, n. 2, p. 110, doi. 10.1111/j.1440-1754.1982.tb02001.x
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- Publication type:
- Article
The tube spacer in children with asthma.
- Published in:
- Journal of Paediatrics & Child Health, 1981, v. 17, n. 1, p. 56, doi. 10.1111/j.1440-1754.1981.tb00016.x
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- Publication type:
- Article
Respiratory allergy in cystic fibrosis.
- Published in:
- Journal of Paediatrics & Child Health, 1980, v. 16, n. 1, p. 53, doi. 10.1111/j.1440-1754.1980.tb02487.x
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- Publication type:
- Article
Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2580, doi. 10.1002/ajmg.a.37870
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- Publication type:
- Article
Mosaic Deletion of 20pter Due to Rescue by Somatic Recombination.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 243, doi. 10.1002/ajmg.a.37407
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- Publication type:
- Article
Correspondence regarding SNX8 haploinsufficiency and its potential for cardiac anomalies including tetralogy of Fallot.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2136, doi. 10.1002/ajmg.a.36572
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- Publication type:
- Article
SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 554, doi. 10.1002/ajmg.a.36242
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- Publication type:
- Article
Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 159, doi. 10.1002/ajmg.a.34349
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- Publication type:
- Article
Concurrent detection of targeted copy number variants and mutations using a myeloid malignancy next generation sequencing panel allows comprehensive genetic analysis using a single testing strategy.
- Published in:
- British Journal of Haematology, 2016, v. 173, n. 1, p. 49, doi. 10.1111/bjh.13921
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- Publication type:
- Article
DNA copy number analysis of Grade II-III and Grade IV gliomas reveals differences in molecular ontogeny including chromothripsis associated with IDH mutation status.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0213-3
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- Publication type:
- Article
Spectrum of epilepsy and electroencephalogram patterns in Wolf–Hirschhorn syndrome: experience with 87 patients.
- Published in:
- Developmental Medicine & Child Neurology, 2009, v. 51, n. 5, p. 373, doi. 10.1111/j.1469-8749.2008.03233.x
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- Publication type:
- Article
Mean CD4 cell count changes in patients failing a first-line antiretroviral therapy in resource-limited settings.
- Published in:
- 2012
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- Publication type:
- journal article
The Impact of Public Policy on LGBT Aging.
- Published in:
- Annual Review of Gerontology & Geriatrics, 2017, v. 37, n. 1, p. 161, doi. 10.1891/0198-8794.37.161
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- Publication type:
- Article
American College of Medical Genetics Standards and Guidelines for Interpretation and Reporting of Postnatal Constitutional Copy Number Variants.
- Published in:
- Journal of International Reproductive Health/Family Planning, 2014, v. 33, n. 3, p. 217
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- Publication type:
- Article
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 464, doi. 10.1038/ejhg.2013.192
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- Publication type:
- Article
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 33, doi. 10.1038/ejhg.2011.135
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- Publication type:
- Article
Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 1, p. 45, doi. 10.1038/sj.ejhg.5201915
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- Publication type:
- Article
Two Unrelated Burkitt Lymphomas Seven Years Apart in a Patient With X-Linked Lymphoproliferative Disease Type 1 (XLP1).
- Published in:
- 2016
- By:
- Publication type:
- journal article
Temporal and Site-Specific Brain Alterations in CB1 Receptor Binding in High Fat Diet-Induced Obesity in C57Bl/6 Mice.
- Published in:
- Journal of Neuroendocrinology, 2008, v. 20, n. 11, p. 1288, doi. 10.1111/j.1365-2826.2008.01785.x
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- Publication type:
- Article
Observations of the genomic landscape beyond 1p19q deletions and EGFR amplification in glioma.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0156-1
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- Publication type:
- Article
Constitutional trisomy 8 mosaicism in a healthy bone marrow donor: Confirmation of first reported donor origin trisomy 8.
- Published in:
- American Journal of Hematology, 2010, v. 85, n. 12, p. 974, doi. 10.1002/ajh.21877
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- Publication type:
- Article
FiSHing Efficiency: A Streamlined Approach to Reducing the Time and Reagents Required to Perform Fluorescence in situ Hybridization Assays on Methanol: Acetic Acid-fixed, Cultured Cells.
- Published in:
- Journal of the Association of Genetic Technologists, 2013, v. 39, n. 1, p. 7
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- Publication type:
- Article
VALUE OF COMBINING B<sub>2</sub> SYMPATHOMIMETIC METERED AEROSOL AND ORAL THEOPHYLLINE IN CHILDREN WITH ASTHMA<sup>*</sup>.
- Published in:
- Medical Journal of Australia, 1981, v. 1, n. 12, p. 643, doi. 10.5694/j.1326-5377.1981.tb135898.x
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- Publication type:
- Article
ALLERGEN SKIN‐PRICK TESTING IN ASTHMATIC CHILDREN.
- Published in:
- Medical Journal of Australia, 1980, v. 2, n. 5, p. 266, doi. 10.5694/j.1326-5377.1980.tb131849.x
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- Publication type:
- Article
VALUE OF COMBINING AN ORAL SYMPATHOMIMETIC AGENT WITH ORAL THEOPHYLLINE IN ASTHMATIC CHILDREN.
- Published in:
- Medical Journal of Australia, 1979, v. 2, n. 3, p. 118, doi. 10.5694/j.1326-5377.1979.tb134491.x
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- Publication type:
- Article
Prenatal Detection of an Interstitial Deletion in 4p15 in a Fetus with an Increased Nuchal Skin Fold Measurement.
- Published in:
- Fetal Diagnosis & Therapy, 2005, v. 20, n. 1, p. 58, doi. 10.1159/000081371
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- Publication type:
- Article
Differentiation of Malignant Melanoma From Benign Nevus Using a Novel Genomic Microarray With Low Specimen Requirements.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2012, v. 136, n. 8, p. 947, doi. 10.5858/arpa.2011-0330-OA
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- Publication type:
- Article