Found: 19
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Perspectives on the future of dysmorphology.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 659, doi. 10.1002/ajmg.a.63060
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- Article
Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3694, doi. 10.1002/ajmg.a.62430
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- Article
41st Annual DavidW. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1328, doi. 10.1002/ajmg.a.62062
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- Article
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1576, doi. 10.1002/ajmg.a.61615
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- Article
Catel–Manzke syndrome without Manzke dysostosis.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 437, doi. 10.1002/ajmg.a.61436
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- Article
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1711, doi. 10.1002/ajmg.a.38854
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- Article
CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2101, doi. 10.1002/ajmg.a.38277
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- Article
Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 414, doi. 10.1002/ajmg.a.38030
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- Article
'CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases' American Journal of Medical Genetics Part A. 164:2557-2566, 2014.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1682, doi. 10.1002/ajmg.a.36860
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- Article
Beare-Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 852, doi. 10.1002/ajmg.a.36985
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- Article
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2557, doi. 10.1002/ajmg.a.36696
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- Article
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
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- Scientific Reports, 2016, p. 19372, doi. 10.1038/srep19372
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- Article
An Algorithm for the Assessment of Facial Asymmetry in Children With Focus on Etiology and Treatment.
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- Cleft Palate Craniofacial Journal, 2019, v. 56, n. 3, p. 419, doi. 10.1177/1055665618775725
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- Article
Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage.
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- Neurosurgical Focus, 2016, v. 41, n. 5, p. 1, doi. 10.3171/2016.8.FOCUS16241
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- Article
Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves.
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- Laryngoscope, 2022, v. 132, n. 1, p. 215, doi. 10.1002/lary.29692
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- Article
Avoidance of surgery for head and neck infantile myofibromatosis using imatinib monotherapy.
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- Clinical Case Reports, 2022, v. 10, n. 2, p. 1, doi. 10.1002/ccr3.5382
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- Article
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
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- Human Molecular Genetics, 2018, v. 27, n. 18, p. 3233, doi. 10.1093/hmg/ddy218
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- Article
Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.
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- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0171-7
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- Article
22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.
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- Molecular Autism, 2016, v. 7, p. 1, doi. 10.1186/s13229-016-0090-z
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- Article