Found: 22
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Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.
- Published in:
- BMC Bioinformatics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2105-15-248
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- Article
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.
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- Molecular Syndromology, 2023, v. 14, n. 4, p. 303, doi. 10.1159/000530197
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- Article
Novel MBTPS2 Missense Mutation in the N-Terminus Transmembrane Domain in a Patient with Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome.
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- Pediatric Dermatology, 2013, v. 30, n. 6, p. e263, doi. 10.1111/pde.12115
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- Article
Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 109, doi. 10.1002/ajmg.c.31496
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- Article
Genome-Wide Expression Analysis in Fibroblast Cell Lines from Probands with Pallister Killian Syndrome.
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- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0108853
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- Article
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 977, doi. 10.1002/ajmg.a.63105
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- Article
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 809, doi. 10.1002/ajmg.a.38071
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- Article
Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2523, doi. 10.1002/ajmg.a.37855
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- Article
Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: Implications for the postnatal growth retardation phenotype.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1268, doi. 10.1002/ajmg.a.36976
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- Article
Cardiac manifestations of Pallister-Killian syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1130, doi. 10.1002/ajmg.a.36413
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- Article
Cardiac manifestations of Pallister-Killian syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 1, doi. 10.1002/ajmg.a.36413
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- Article
Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3150, doi. 10.1002/ajmg.a.36159
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- Article
Homozygosity for the V37I GJB 2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2148, doi. 10.1002/ajmg.a.36042
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- Article
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1929, doi. 10.1002/ajmg.a.36045
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- Article
Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low- Level Uniparental Disomy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 993, doi. 10.1002/ajmg.a.35831
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- Article
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 371, doi. 10.1002/ajmg.a.35733
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- Article
Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3033, doi. 10.1002/ajmg.a.35500
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- Article
Novel clinical manifestations in Pallister-Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3002, doi. 10.1002/ajmg.a.35722
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- Article
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3046, doi. 10.1002/ajmg.a.35726
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- Article
Utilization of Exome Sequencing for Diagnosis and Discovery of Genetic Causes of Sensorineural Hearing Loss.
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- Otolaryngology-Head & Neck Surgery, 2014, v. 151, p. P247, doi. 10.1177/0194599814541629a347
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- Article
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
- Published in:
- Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0038-y
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- Article
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death
- Published in:
- Human Genomics, 2015, v. 9, n. 1, p. 15, doi. 10.1186/s40246-015-0038-y
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- Article