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Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37585-8
- By:
- Publication type:
- Article
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
- Published in:
- 2021
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- Publication type:
- journal article
De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.
- Published in:
- 2017
- By:
- Publication type:
- Letter
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma‐like mesenchymal tumors.
- Published in:
- Journal of Pathology, 2024, v. 263, n. 2, p. 166, doi. 10.1002/path.6272
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- Publication type:
- Article
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14656, doi. 10.3390/ijms232314656
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- Publication type:
- Article
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1815, doi. 10.3390/ijms23031815
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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
DNA Methylation Profiling for Diagnosing Undifferentiated Sarcoma with Capicua Transcriptional Receptor (CIC) Alterations.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 5, p. 1818, doi. 10.3390/ijms21051818
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- Publication type:
- Article
Identification of a novel cis-regulatory element for UV-B-induced transcription in Arabidopsis.
- Published in:
- Plant Journal, 2008, v. 54, n. 3, p. 402, doi. 10.1111/j.1365-313X.2008.03435.x
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- Publication type:
- Article
Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 160, doi. 10.1002/ajmg.c.32034
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- Publication type:
- Article
Broadening the phenotypic spectrum of Beta3GalT6‐associated phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3153, doi. 10.1002/ajmg.a.62399
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- Publication type:
- Article
POGZ‐related epilepsy: Case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1631, doi. 10.1002/ajmg.a.61206
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- Publication type:
- Article
Cover Image, Volume 170A, Number 7, July 2016.
- Published in:
- 2016
- By:
- Publication type:
- Other
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1772, doi. 10.1002/ajmg.a.37649
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- Publication type:
- Article
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 661, doi. 10.1038/ng.3282
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- Publication type:
- Article
Mutations in ZBTB20 cause Primrose syndrome.
- Published in:
- Nature Genetics, 2014, v. 46, n. 8, p. 815, doi. 10.1038/ng.3035
- By:
- Publication type:
- Article
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37585-8
- By:
- Publication type:
- Article
Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile population.
- Published in:
- Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-023-01621-7
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- Publication type:
- Article
Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling.
- Published in:
- Cancers, 2021, v. 13, n. 4, p. 706, doi. 10.3390/cancers13040706
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- Publication type:
- Article
The Arabidopsis Homeodomain-leucine Zipper II gene family: diversity and redundancy.
- Published in:
- Plant Molecular Biology, 2008, v. 68, n. 4-5, p. 465, doi. 10.1007/s11103-008-9383-8
- By:
- Publication type:
- Article
Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profiling.
- Published in:
- NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00578-x
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- Publication type:
- Article
Role of DNA Methylation Profile in Diagnosing Astroblastoma: A Case Report and Literature Review.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00391
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- Publication type:
- Article
DNA methylation signature classification of rare disorders using publicly available methylation data.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 6, p. 688, doi. 10.1111/cge.14304
- By:
- Publication type:
- Article
SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 12, doi. 10.1111/cge.14140
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- Publication type:
- Article
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 2, p. 172, doi. 10.1111/cge.13775
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- Publication type:
- Article
Expanding the clinical spectrum associated with PACS2 mutations.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 4, p. 525, doi. 10.1111/cge.13516
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- Publication type:
- Article
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 2, p. 299, doi. 10.1007/s10875-021-01159-4
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- Publication type:
- Article
Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination.
- Published in:
- Brain Pathology, 2021, v. 31, n. 3, p. 1, doi. 10.1111/bpa.12934
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- Publication type:
- Article
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 5, p. 870, doi. 10.1007/s00415-014-7287-x
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- Publication type:
- Article
Adult-onset KMT2B-related dystonia.
- Published in:
- Brain Communications, 2022, v. 4, n. 6, p. 1, doi. 10.1093/braincomms/fcac276
- By:
- Publication type:
- Article
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1892, doi. 10.1093/hmg/ddy096
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- Publication type:
- Article
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
- Published in:
- Cell Death & Disease, 2019, v. 10, n. 3, p. 1, doi. 10.1038/s41419-019-1453-0
- By:
- Publication type:
- Article
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
- Published in:
- Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01145-y
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- Publication type:
- Article
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-019-0804-0
- 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
Editorial: From Sequence to Functional Interpretation: Sifting Through the Variation of Genomic Data.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.932299
- By:
- Publication type:
- Article
Dynamics of the Shade-Avoidance Response in Arabidopsis.
- Published in:
- Plant Physiology, 2013, v. 163, n. 1, p. 331, doi. 10.1104/pp.113.221549
- By:
- Publication type:
- Article
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders.
- Published in:
- Human Mutation, 2022, v. 43, n. 11, p. 1609, doi. 10.1002/humu.24446
- By:
- Publication type:
- Article
Front Cover, Volume 40, Issue 6.
- Published in:
- Human Mutation, 2019, v. 40, n. 6, p. i, doi. 10.1002/humu.23795
- By:
- Publication type:
- Article
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations.
- Published in:
- Human Mutation, 2019, v. 40, n. 6, p. 721, doi. 10.1002/humu.23734
- By:
- Publication type:
- Article
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1080, doi. 10.1002/humu.22834
- By:
- Publication type:
- Article
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-47866-5
- By:
- Publication type:
- Article
A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
- Published in:
- Neurogenetics, 2018, v. 19, n. 2, p. 111, doi. 10.1007/s10048-018-0545-9
- By:
- Publication type:
- Article
Modeling medulloblastoma in vivo and with human cerebellar organoids.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-13989-3
- By:
- Publication type:
- Article