Found: 14
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Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 896, doi. 10.1002/ajmg.c.31851
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- Article
Nosology of genetic skeletal disorders: 2023 revision.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1164, doi. 10.1002/ajmg.a.63132
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- Article
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1545, doi. 10.1002/ajmg.a.62651
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- Article
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene-the clinical and radiological follow-up.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 894, doi. 10.1002/ajmg.a.36954
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- Article
Further evidence of the importance of RIT1 in Noonan syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2952, doi. 10.1002/ajmg.a.36722
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- Article
Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 600, doi. 10.1002/ajmg.a.35762
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- Article
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2170, doi. 10.1002/ajmg.a.35526
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- Article
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1077, doi. 10.1002/ajmg.a.35290
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- Article
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1178, doi. 10.1002/ajmg.a.35270
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- Article
A new insight into CFTR allele frequency in Brazil through next generation sequencing.
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- Pediatric Pulmonology, 2017, v. 52, n. 10, p. 1300, doi. 10.1002/ppul.23774
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- Article
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes.
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- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0075-6
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- Article
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2479, doi. 10.1002/ajmg.a.34023
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- Article
Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1581, doi. 10.1002/ajmg.a.34036
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- Article
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.
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- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-50
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- Article