Found: 13
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Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.
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- PLoS ONE, 2018, v. 13, n. 9, p. 1, doi. 10.1371/journal.pone.0201005
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- Article
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 6064, doi. 10.3390/ijms22116064
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- Article
Diagnosis of maternal Hodgkin lymphoma following abnormal findings at noninvasive prenatal screening test (NIPT): Report of two cases.
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- Clinical Case Reports, 2021, v. 9, n. 3, p. 1066, doi. 10.1002/ccr3.3593
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- Article
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
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- Human Genetics, 2023, v. 142, n. 6, p. 785, doi. 10.1007/s00439-023-02547-z
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- Article
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.875182
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- Article
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease.
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- Journal of Nephrology (JNonline), 2016, v. 29, n. 3, p. 451, doi. 10.1007/s40620-016-0282-9
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- Article
Impact of the Free-Pelvis Innovation in Very Rigid Braces for Adolescents with Idiopathic Scoliosis: Short-Term Results of a Matched Case-Control Study.
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- Children, 2022, v. 9, n. 6, p. 871, doi. 10.3390/children9060871
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- Article
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot.
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- Journal of Genetics, 2021, v. 100, n. 1, p. 1, doi. 10.1007/s12041-020-01257-z
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- Article
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.
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- Human Mutation, 2020, v. 41, n. 4, p. 759, doi. 10.1002/humu.23963
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- Article
The New Modular Sforzesco Brace (Modular Italian Brace) Is as Effective as the Classical One: A Retrospective Controlled Study from a Prospective Cohort.
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- Journal of Clinical Medicine, 2024, v. 13, n. 7, p. 2075, doi. 10.3390/jcm13072075
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- Article
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
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- Cytogenetic & Genome Research, 2016, v. 147, n. 1, p. 10, doi. 10.1159/000442308
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- Article
Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM).
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- Antioxidants, 2022, v. 11, n. 7, p. 1294, doi. 10.3390/antiox11071294
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- Article
Team care to cure adolescents with braces (avoiding low quality of life, pain and bad compliance): a case-control retrospective study. 2011 SOSORT Award winner.
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- Scoliosis (17487161), 2012, v. 7, n. 1, p. 17, doi. 10.1186/1748-7161-7-17
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- Article