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Multi-Omic Investigations of a 17–19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9392, doi. 10.3390/ijms23169392
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- Article
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
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- Publication type:
- Article
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
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- Publication type:
- Article
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00855-5
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- Publication type:
- Article
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
- Published in:
- Neurogenetics, 2021, v. 22, n. 1, p. 71, doi. 10.1007/s10048-020-00633-2
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- Article
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18723-y
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- Publication type:
- Article
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0675-1
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- Publication type:
- Article
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00896
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- Article
Front Cover.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. i, doi. 10.1111/cge.13478
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- Article
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 528, doi. 10.1111/cge.13448
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- Publication type:
- Article
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
- Published in:
- 2017
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- Publication type:
- journal article
Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3083, doi. 10.1002/ajmg.a.36769
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- Publication type:
- Article
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1111, doi. 10.1002/ajmg.a.35311
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- Publication type:
- Article