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Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 6, p. 596, doi. 10.1111/cge.14490
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- Article
Clinical, Radiological, and Molecular Findings in Cases with TRAPPopathies.
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- Journal of the Child / Çocuk Dergisi, 2023, v. 23, n. 3, p. 1, doi. 10.26650/jchild.2023.1294229
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- Article
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2976, doi. 10.1002/ajmg.a.62944
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- Article
Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 4, p. 421, doi. 10.1111/cge.14117
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- Article
Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
- Published in:
- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2021, v. 17, n. 3, p. 240, doi. 10.4274/tnd.2021.91298
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- Article