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Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.
- Published in:
- Journal of the American Medical Informatics Association, 2024, v. 31, n. 2, p. 536, doi. 10.1093/jamia/ocad211
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- Article
Functional characterization of tissue-specific enhancers in the DLX5/6 locus.
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- Human Molecular Genetics, 2012, v. 21, n. 22, p. 4930, doi. 10.1093/hmg/dds336
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- Publication type:
- Article
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
- Published in:
- 2019
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- Publication type:
- journal article
The FU gene and its possible protein isoforms.
- Published in:
- BMC Genomics, 2004, v. 5, p. 1, doi. 10.1186/1471-2164-5-49
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- Publication type:
- Article
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1144, doi. 10.1038/ejhg.2011.97
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- Article
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
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- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0658-5
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- Publication type:
- Article
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
- Published in:
- 2017
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- Publication type:
- journal article
Respiratory failure requiring extracorporeal membrane oxygenation after sodium phosphate enema intoxication.
- Published in:
- European Journal of Pediatrics, 2003, v. 162, n. 7/8, p. 517, doi. 10.1007/s00431-002-0987-8
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- Publication type:
- Article
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 391, doi. 10.1002/ajmg.a.34216
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- Publication type:
- Article
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.
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- BMC Medical Genetics, 2007, v. 8, p. 1, doi. 10.1186/1471-2350-8-48
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- Publication type:
- Article
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
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- Human Mutation, 2020, v. 41, n. 5, p. 921, doi. 10.1002/humu.23992
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- Publication type:
- Article
Cover Image, Volume 39, Issue 12.
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- Human Mutation, 2018, v. 39, n. 12, p. i, doi. 10.1002/humu.23687
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- Publication type:
- Article
The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 2008, doi. 10.1002/humu.23647
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- Publication type:
- Article
Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum.
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- Human Mutation, 2014, v. 35, n. 5, p. 521, doi. 10.1002/humu.22538
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- Publication type:
- Article
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1457, doi. 10.1093/hmg/ddac296
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- Publication type:
- Article
A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes.
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- Human Molecular Genetics, 2019, v. 28, n. 9, p. 1548, doi. 10.1093/hmg/ddy423
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- Publication type:
- Article
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2988, doi. 10.1002/ajmg.a.62913
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- Publication type:
- Article
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1791, doi. 10.1002/ajmg.a.37670
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- Publication type:
- Article
Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2860, doi. 10.1002/ajmg.a.36239
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- Publication type:
- Article
Clinical utility of the X-chromosome array.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 120, doi. 10.1002/ajmg.a.35698
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- Publication type:
- Article
Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.
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- Cytogenetic & Genome Research, 2023, v. 163, n. 1/2, p. 14, doi. 10.1159/000533218
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- Publication type:
- Article
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 774, doi. 10.1002/mgg3.319
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- Publication type:
- Article
A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 16, p. 1959, doi. 10.1093/hmg/ddg212
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- Publication type:
- Article
Expanding the Neurologic Phenotype of Oculodentodigital Dysplasia in a 4-Generation Hispanic Family.
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- Journal of Child Neurology, 2008, v. 23, n. 8, p. 901, doi. 10.1177/0883073808317730
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- Publication type:
- Article