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Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.
- Published in:
- Disease Markers, 2010, v. 28, n. 5, p. 287, doi. 10.1155/2010/530360
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- Publication type:
- Article
Autoimmunity and regulatory T cells in 22q11.2 deletion syndrome patients.
- Published in:
- Pediatric Allergy & Immunology, 2015, v. 26, n. 6, p. 591, doi. 10.1111/pai.12420
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- Publication type:
- Article
Telomere shortening and telomere position effect in mild ring 17 syndrome.
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- Epigenetics & Chromatin, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1756-8935-7-1
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- Publication type:
- Article
Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 3, p. 156, doi. 10.1111/j.1399-0004.1995.tb04077.x
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- Publication type:
- Article
Transcriptomic and proteomic analysis of a compatible tomato-aphid interaction reveals a predominant salicylic acid-dependent plant response.
- Published in:
- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-515
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- Publication type:
- Article
Trichoderma harzianum enhances tomato indirect defense against aphids.
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- Insect Science, 2017, v. 24, n. 6, p. 1025, doi. 10.1111/1744-7917.12475
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- Publication type:
- Article
22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects.
- Published in:
- Children, 2022, v. 9, n. 6, p. 772, doi. 10.3390/children9060772
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- Publication type:
- Article
Deep Intronic LINE-1 Insertions in NF1 : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 5, p. 725, doi. 10.3390/biom13050725
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- Publication type:
- Article
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
- Published in:
- 2017
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- Publication type:
- Case Study
A standard echocardiographic and tissue Doppler study of morphological and functional findings in children with hypertrophic cardiomyopathy compared to those with left ventricular hypertrophy in the setting of Noonan and LEOPARD syndromes.
- Published in:
- Cardiology in the Young, 2008, v. 18, n. 6, p. 575, doi. 10.1017/S104795110800320X
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- Publication type:
- Article
Types of cardiac defects in children with Down's syndrome.
- Published in:
- 2006
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- Publication type:
- Letter
The mendelian basis of congenital heart defects.
- Published in:
- Cardiology in the Young, 1996, v. 6, n. 4, p. 264, doi. 10.1017/S1047951100003887
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- Publication type:
- Article
Clinical spectrum of Kabuki‐like syndrome caused by HNRNPK haploinsufficiency.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 2, p. 401, doi. 10.1111/cge.13029
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- Publication type:
- Article
Indicated prevention with long-chain polyunsaturated omega-3 fatty acids in patients with 22q11 DS genetically at high risk for psychosis. Protocol of a randomized, double-blind, placebo-controlled treatment trial.
- Published in:
- Early Intervention in Psychiatry, 2016, v. 10, n. 5, p. 390, doi. 10.1111/eip.12197
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- Publication type:
- Article
Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.
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- Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01575-3
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- Publication type:
- Article
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
- Published in:
- 2020
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- Publication type:
- journal article
Cover Image, Volume 39, Issue 10.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. i, doi. 10.1002/humu.23622
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- Publication type:
- Article
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1428, doi. 10.1002/humu.23593
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- Publication type:
- Article
Chlamyphilone, a Novel Pochonia chlamydosporia Metabolite with Insecticidal Activity.
- Published in:
- Molecules, 2019, v. 24, n. 4, p. 750, doi. 10.3390/molecules24040750
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- Publication type:
- Article
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.
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- Journal of Cardiovascular Development & Disease (JCDD), 2024, v. 11, n. 4, p. 114, doi. 10.3390/jcdd11040114
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- Publication type:
- Article
Selection of Endophytic Beauveria bassiana as a Dual Biocontrol Agent of Tomato Pathogens and Pests.
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- Pathogens, 2021, v. 10, n. 10, p. 1242, doi. 10.3390/pathogens10101242
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- Publication type:
- Article
A New Case of Autosomal-Dominant POLR3B -Related Disorder: Widening Genotypic and Phenotypic Spectrum.
- Published in:
- 2023
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- Publication type:
- Case Study
Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 233, doi. 10.3390/brainsci11020233
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- Publication type:
- Article
Recognition Memory in Noonan Syndrome.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 169, doi. 10.3390/brainsci11020169
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- Publication type:
- Article
7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 839, doi. 10.3390/brainsci10110839
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- Publication type:
- Article
Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome.
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- Brain Sciences (2076-3425), 2019, v. 9, n. 11, p. 313, doi. 10.3390/brainsci9110313
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- Publication type:
- Article
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1068, doi. 10.1038/ejhg.2014.243
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- Publication type:
- Article
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 64, doi. 10.1038/ejhg.2013.101
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- Publication type:
- Article
Atrioventricular canal defect in patients with RASopathies.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 200, doi. 10.1038/ejhg.2012.145
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- Publication type:
- Article
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
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- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 69, doi. 10.1038/ejhg.2012.109
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- Publication type:
- Article
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.
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- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 317, doi. 10.1038/ejhg.2009.181
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- Publication type:
- Article
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
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- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 178, doi. 10.1038/ejhg.2009.154
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- Publication type:
- Article
16p subtelomeric duplication: a clinically recognizable syndrome.
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- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1135, doi. 10.1038/ejhg.2009.14
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- Publication type:
- Article
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 733, doi. 10.1038/ejhg.2008.256
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- Publication type:
- Article
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene.
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- European Journal of Human Genetics, 2003, v. 11, n. 4, p. 349, doi. 10.1038/sj.ejhg.5200956
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- Publication type:
- Article
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 903, doi. 10.1038/sj.ejhg.5200399
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- Publication type:
- Article
Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report.
- Published in:
- Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2382
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- Publication type:
- Article
Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review.
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- Birth Defects Research, 2022, v. 114, n. 13, p. 759, doi. 10.1002/bdr2.2058
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- Publication type:
- Article
Neurobehavioral features in individuals with Kabuki syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 322, doi. 10.1002/mgg3.348
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- Publication type:
- Article
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
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- Journal of the American Heart Association, 2024, v. 13, n. 3, p. 1, doi. 10.1161/JAHA.123.031377
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- Publication type:
- Article
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.761171
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- Publication type:
- Article
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 160, doi. 10.3390/genes14010160
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- Publication type:
- Article
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 146, doi. 10.3390/genes14010146
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- Publication type:
- Article
Differences and Similarities in Adaptive Functioning between Children with Autism Spectrum Disorder and Williams–Beuren Syndrome: A Longitudinal Study.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1266, doi. 10.3390/genes13071266
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- Publication type:
- Article
SARS-CoV-2 and Pre-Tamponade Pericardial Effusion. Could Sotos Syndrome Be a Major Risk Factor?
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1782, doi. 10.3390/genes12111782
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- Publication type:
- Article
Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1047, doi. 10.3390/genes12071047
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- Publication type:
- Article
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.
- Published in:
- 2019
- By:
- Publication type:
- letter
Do interactions between plant roots and the rhizosphere affect parasitoid behaviour?
- Published in:
- Ecological Entomology, 2004, v. 29, n. 6, p. 753, doi. 10.1111/j.0307-6946.2004.00644.x
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- Publication type:
- Article
Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.
- Published in:
- PLoS ONE, 2019, v. 14, n. 4, p. 1, doi. 10.1371/journal.pone.0211170
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- Publication type:
- Article
Development and nutrition of the braconid wasp, Aphidius ervi in aposymbiotic host aphids.
- Published in:
- Archives of Insect Biochemistry & Physiology, 1999, v. 40, n. 1, p. 53, doi. 10.1002/(SICI)1520-6327(1999)40:1<53::AID-ARCH6>3.0.CO;2-J
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- Publication type:
- Article