Found: 17
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Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA; p.G12E)-Associated Pulmonary Vascular Disease.
- Published in:
- Pediatric & Developmental Pathology, 2014, v. 17, n. 6, p. 421, doi. 10.2350/14-05-1488-OA.1
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- Publication type:
- Article
Central nervous system involvement in individuals with RASopathies.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 494, doi. 10.1002/ajmg.c.32023
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- Publication type:
- Article
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 195, doi. 10.1002/ajmg.a.63397
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- Publication type:
- Article
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 526, doi. 10.1002/ajmg.a.63057
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- Publication type:
- Article
Craniosynostosis is a feature of Costello syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1280, doi. 10.1002/ajmg.a.62620
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- Publication type:
- Article
Robin sequence without cleft palate: Genetic diagnoses and management implications.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 160, doi. 10.1002/ajmg.a.62515
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- Publication type:
- Article
Genetic and phenotypic heterogeneity in KIAA0753‐related ciliopathies.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 104, doi. 10.1002/ajmg.a.62497
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- Publication type:
- Article
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 413, doi. 10.1002/ajmg.a.61977
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- Publication type:
- Article
Medically actionable comorbidities in adults with Costello syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 130, doi. 10.1002/ajmg.a.61394
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- Publication type:
- Article
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1725, doi. 10.1002/ajmg.a.61270
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- Publication type:
- Article
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2607, doi. 10.1002/ajmg.a.36688
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- Publication type:
- Article
Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1062, doi. 10.1002/ajmg.a.36390
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- Publication type:
- Article
Fetal magnetic resonance imaging of skeletal dysplasias.
- Published in:
- 2020
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- Publication type:
- journal article
Phenotypes and genotypes in a cohort of children with single-ventricle CHD.
- Published in:
- Cardiology in the Young, 2024, v. 34, n. 4, p. 815, doi. 10.1017/S1047951123003505
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- Publication type:
- Article
Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia.
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- Prenatal Diagnosis, 2014, v. 34, n. 13, p. 1326, doi. 10.1002/pd.4475
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- Publication type:
- Article
Variable presentation between a mother and a fetus with Goltz syndrome.
- Published in:
- Prenatal Diagnosis, 2013, v. 33, n. 12, p. 1211, doi. 10.1002/pd.4216
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- Publication type:
- Article
Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient.
- Published in:
- Genes, 2016, v. 7, n. 10, p. 85, doi. 10.3390/genes7100085
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- Publication type:
- Article