Found: 25
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An algorithm to identify patients aged 0–3 with rare genetic disorders.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03188-9
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- Article
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.
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- International Journal of Environmental Research & Public Health, 2024, v. 21, n. 5, p. 615, doi. 10.3390/ijerph21050615
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- Publication type:
- Article
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2743, doi. 10.1002/ajmg.a.63389
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- Publication type:
- Article
Novel biallelic variants expand the phenotype of NAA20‐related syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 371, doi. 10.1111/cge.14359
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- Publication type:
- Article
A novel deleterious ETFA promoter variant causative of multiple acyl‐CoA dehydrogenase deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1089, doi. 10.1002/ajmg.a.63104
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- Publication type:
- Article
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.68047
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- Publication type:
- Article
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
- Published in:
- Human Genetics, 2021, v. 140, n. 12, p. 1709, doi. 10.1007/s00439-021-02379-9
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- Publication type:
- Article
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 685, doi. 10.1002/humu.24201
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- Publication type:
- Article
A framework for the evaluation of patients with congenital facial weakness.
- Published in:
- 2021
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- Publication type:
- journal article
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
- Published in:
- Muscle & Nerve, 2021, v. 63, n. 4, p. 516, doi. 10.1002/mus.27159
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- Publication type:
- Article
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
- Published in:
- 2020
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- Publication type:
- journal article
Haploinsufficiency of the basic helix–loop–helix transcription factor HAND2 causes congenital heart defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1263, doi. 10.1002/ajmg.a.61537
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- Publication type:
- Article
Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1053
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- Article
Cover.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1169
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- Publication type:
- Article
Clinical, biochemical, and genetic features associated with <italic>VARS2</italic>‐related mitochondrial disease.
- Published in:
- Human Mutation, 2018, v. 39, n. 4, p. 563, doi. 10.1002/humu.23398
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- Publication type:
- Article
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2763, doi. 10.1002/ajmg.a.38375
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- Publication type:
- Article
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
- Published in:
- Nature Communications, 2017, v. 8, n. 7, p. 16077, doi. 10.1038/ncomms16077
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- Publication type:
- Article
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.
- Published in:
- Human Mutation, 2017, v. 38, n. 4, p. 373, doi. 10.1002/humu.23171
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- Publication type:
- Article
Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.
- Published in:
- Application of Clinical Genetics, 2016, v. 9, p. 141, doi. 10.2147/TACG.S113828
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- Publication type:
- Article
Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.
- Published in:
- Risk Management & Healthcare Policy, 2016, v. 9, p. 141
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- Publication type:
- Article
Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach.
- Published in:
- Cleft Palate Craniofacial Journal, 2016, v. 53, n. 1, p. 126, doi. 10.1597/13-353
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- Publication type:
- Article
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.
- Published in:
- Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0207-6
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- Publication type:
- Article
Novel, Compound Heterozygous, Single-Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 587, doi. 10.1002/humu.22781
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- Publication type:
- Article
Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1068, doi. 10.1093/brain/awu021
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- Publication type:
- Article
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 522, doi. 10.1093/brain/aws345
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- Publication type:
- Article