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The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-71667-x
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- Publication type:
- Article
The Fight Just Born—Neonatal Cancer: Rare Occurrence with a Favorable Outcome but Challenging Management.
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- Cancers, 2022, v. 14, n. 9, p. N.PAG, doi. 10.3390/cancers14092244
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- Publication type:
- Article
PRKRA‐Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum.
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- Movement Disorders, 2021, v. 36, n. 4, p. 1038, doi. 10.1002/mds.28492
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- Publication type:
- Article
Validation of an Extensive CYP2D6 Assay Panel Based on Invader and TaqMan Copy Number Assays.
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- Journal of Applied Laboratory Medicine, 2017, p. 471, doi. 10.1373/jalm.2016.021923
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- Publication type:
- Article
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
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- Clinical Genetics, 2020, v. 98, n. 2, p. 172, doi. 10.1111/cge.13775
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- Publication type:
- Article
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF‐opathy phenotype.
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- Clinical Genetics, 2020, v. 97, n. 4, p. 672, doi. 10.1111/cge.13682
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- Publication type:
- Article
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.
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- Clinical Genetics, 2020, v. 97, n. 4, p. 649, doi. 10.1111/cge.13691
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- Publication type:
- Article
COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap.
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- Clinical Genetics, 2020, v. 97, n. 3, p. 396, doi. 10.1111/cge.13683
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- Publication type:
- Article
Novel exostosin‐2 missense variants in a family with autosomal recessive exostosin‐2‐related syndrome: further evidences on the phenotype.
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- Clinical Genetics, 2019, v. 95, n. 1, p. 165, doi. 10.1111/cge.13458
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- Publication type:
- Article
Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report.
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- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01503-x
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- Publication type:
- Article
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
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- Human Mutation, 2021, v. 42, n. 5, p. 506, doi. 10.1002/humu.24179
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- Publication type:
- Article
Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants--differential diagnosis and recommendation for biochemical and genetic screening.
- Published in:
- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1319885
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- Publication type:
- Article
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.
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- Pediatric Transplantation, 2022, v. 26, n. 6, p. 1, doi. 10.1111/petr.14318
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- Publication type:
- Article
Inhibition of HECT E3 ligases as potential therapy for COVID-19.
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- Cell Death & Disease, 2021, v. 12, n. 4, p. 1, doi. 10.1038/s41419-021-03513-1
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- Publication type:
- Article
WWP1 germline variants are associated with normocephalic autism spectrum disorder.
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- Cell Death & Disease, 2020, v. 11, n. 7, p. 1, doi. 10.1038/s41419-020-2681-z
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- Publication type:
- Article
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
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- 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
SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome.
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- Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1228389
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- Publication type:
- Article
Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings.
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- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1493, doi. 10.1002/pd.6204
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- Publication type:
- Article
Deciphering Genetic Variants of Warfarin Metabolism in Children With Ventricular Assist Devices.
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- Pediatric Cardiology, 2021, v. 42, n. 5, p. 1082, doi. 10.1007/s00246-021-02585-2
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- 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
14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1289
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- Publication type:
- Article
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 446, doi. 10.1002/mgg3.376
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- Publication type:
- Article
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1307934
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- Publication type:
- Article
A second case report of medulloblastoma in a patient carrying biallelic pathogenic MUTYH germline variants.
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- Neuropathology & Applied Neurobiology, 2024, v. 50, n. 2, p. 1, doi. 10.1111/nan.12968
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- Publication type:
- Article
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review.
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- Genes, 2024, v. 15, n. 1, p. 130, doi. 10.3390/genes15010130
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- Publication type:
- Article
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis.
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- Genes, 2023, v. 14, n. 2, p. 484, doi. 10.3390/genes14020484
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- Publication type:
- Article
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
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- Genes, 2021, v. 12, n. 7, p. 962, doi. 10.3390/genes12070962
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- Publication type:
- Article
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.
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- Genes, 2020, v. 11, n. 12, p. 1513, doi. 10.3390/genes11121513
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- Publication type:
- Article
COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells.
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- Genes, 2020, v. 11, n. 9, p. 1010, doi. 10.3390/genes11091010
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- Article
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.
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- Genes, 2019, v. 10, n. 12, p. 967, doi. 10.3390/genes10120967
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- Publication type:
- Article
Targeted therapy for pediatric diffuse intrinsic pontine glioma: a single-center experience.
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- Therapeutic Advances in Medical Oncology, 2022, p. 1, doi. 10.1177/17588359221113693
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- Publication type:
- Article
Publisher Correction: Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation.
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- 2022
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- Publication type:
- Correction Notice
Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17020-6
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- Publication type:
- Article
Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease.
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- 2022
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- Publication type:
- Case Study
Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.869042
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- Publication type:
- Article
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.
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- Pediatric Reports, 2022, v. 14, n. 1, p. 131, doi. 10.3390/pediatric14010019
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- Article
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication.
- Published in:
- 2020
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- Publication type:
- Letter
Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia.
- Published in:
- Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2023.1324013
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- Publication type:
- Article
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
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- Glycoconjugate Journal, 2019, v. 36, n. 6, p. 461, doi. 10.1007/s10719-019-09890-2
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- Publication type:
- Article
Liquid Biopsy with Detection of NRAS Q61K Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma.
- Published in:
- Diagnostics (2075-4418), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/diagnostics12071609
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- Publication type:
- Article
Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review.
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- Diagnostics (2075-4418), 2021, v. 11, n. 4, p. 647, doi. 10.3390/diagnostics11040647
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- Publication type:
- Article
Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis.
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- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 254, doi. 10.3390/diagnostics11020254
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- Publication type:
- Article
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature.
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- Diagnostics (2075-4418), 2020, v. 10, n. 8, p. 582, doi. 10.3390/diagnostics10080582
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- Publication type:
- Article
BRAF V600E Inhibitor (Vemurafenib) for BRAF V600E Mutated Low Grade Gliomas.
- Published in:
- Frontiers in Oncology, 2018, p. N.PAG, doi. 10.3389/fonc.2018.00526
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- Publication type:
- Article
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 534, doi. 10.1093/brain/awac278
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- Publication type:
- Article
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
- Published in:
- 2020
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- Publication type:
- journal article
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
- Published in:
- 2020
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- Publication type:
- journal article
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.
- Published in:
- 2019
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- Publication type:
- journal article
Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management.
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. N.PAG, doi. 10.3389/fonc.2021.586288
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- Publication type:
- Article
Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study.
- Published in:
- Cancer Control: Journal of the Moffitt Cancer Center, 2023, p. 1, doi. 10.1177/10732748221144930
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- Publication type:
- Article