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Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 6, p. 537, doi. 10.1159/000524703
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- Article
Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome.
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- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 296, doi. 10.1159/000511609
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- Article
Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.
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- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 302, doi. 10.1159/000510481
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- Article
ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2474, doi. 10.1002/ajmg.a.61363
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- Article
Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2009, doi. 10.1002/ajmg.a.40427
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- Article
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3143, doi. 10.1002/ajmg.a.38495
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- Article
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.
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- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1643, doi. 10.1093/hmg/ddt014
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- Article
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 711, doi. 10.1002/humu.24199
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- Article