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A New Case of Autosomal-Dominant POLR3B -Related Disorder: Widening Genotypic and Phenotypic Spectrum.
- Published in:
- 2023
- By:
- 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
- By:
- Publication type:
- Letter
Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.
- Published in:
- BMC Medical Genomics, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8794-6-3
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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
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.
- Published in:
- Insect Science, 2017, v. 24, n. 6, p. 1025, doi. 10.1111/1744-7917.12475
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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.
- Published in:
- Journal of Cardiovascular Development & Disease (JCDD), 2024, v. 11, n. 4, p. 114, doi. 10.3390/jcdd11040114
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- Publication type:
- Article
Molecular and chemical mechanisms involved in aphid resistance in cultivated tomato.
- Published in:
- New Phytologist, 2010, v. 187, n. 4, p. 1089, doi. 10.1111/j.1469-8137.2010.03314.x
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- Publication type:
- Article
Temperature Differentially Influences the Capacity of Trichoderma Species to Induce Plant Defense Responses in Tomato Against Insect Pests.
- Published in:
- Frontiers in Plant Science, 2021, v. 12, p. 1, doi. 10.3389/fpls.2021.678830
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- Publication type:
- Article
Zucchini Plants Alter Gene Expression and Emission of (E)-β-Caryophyllene Following Aphis gossypii Infestation.
- Published in:
- Frontiers in Plant Science, 2021, v. 11, p. N.PAG, doi. 10.3389/fpls.2020.592603
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- Publication type:
- Article
Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1315291
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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.
- Published in:
- 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
Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5484, doi. 10.3390/ijms22115484
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- Publication type:
- Article
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1190, doi. 10.3390/ijms22031190
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- Publication type:
- Article
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 82, doi. 10.3390/ijms19010082
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- Publication type:
- Article
Plant response to feeding aphids promotes aphid dispersal.
- Published in:
- Entomologia Experimentalis et Applicata, 2018, v. 166, n. 5, p. 386, doi. 10.1111/eea.12677
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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.
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- Genes, 2021, v. 12, n. 7, p. 1047, doi. 10.3390/genes12071047
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- Publication type:
- Article
Atrioventricular canal defect in patients with RASopathies.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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?
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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
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
Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 510, doi. 10.1002/ajmg.c.32025
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- Publication type:
- Article
Behavioral phenotype in Costello syndrome with atypical mutation: A case report.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2015, v. 168B, n. 1, p. 66, doi. 10.1002/ajmg.b.32279
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- Publication type:
- Article
Neurobehavioral Phenotype Observed in KBG Syndrome Caused by ANKRD11 Mutations.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 1, p. 17, doi. 10.1002/ajmg.b.32113
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- Publication type:
- Article
Expanding the novel MAPKAPK5–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 2, p. 142, doi. 10.1111/cge.14150
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- Publication type:
- Article
Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 6, p. 842, doi. 10.1111/cge.13957
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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
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.
- Published in:
- Annals of Human Genetics, 2019, v. 83, n. 2, p. 100, doi. 10.1111/ahg.12289
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- Publication type:
- Article
Genetics of atrioventricular canal defects.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00825-4
- By:
- 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
- By:
- Publication type:
- journal article
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
- Published in:
- Diagnostics (2075-4418), 2024, v. 14, n. 6, p. 594, doi. 10.3390/diagnostics14060594
- By:
- Publication type:
- Article
Severe herpes virus 6 interstitial pneumonia in an infant with three variants in genes predisposing to lung disease.
- Published in:
- Journal of Medical Virology, 2021, v. 93, n. 8, p. 5182, doi. 10.1002/jmv.27016
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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.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 13, p. 759, doi. 10.1002/bdr2.2058
- By:
- Publication type:
- Article
Selection of Endophytic Beauveria bassiana as a Dual Biocontrol Agent of Tomato Pathogens and Pests.
- Published in:
- Pathogens, 2021, v. 10, n. 10, p. 1242, doi. 10.3390/pathogens10101242
- By:
- Publication type:
- Article
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.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 169, doi. 10.3390/brainsci11020169
- By:
- 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
- By:
- Publication type:
- Article