Found: 9
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Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
- Published in:
- British Journal of Haematology, 2024, v. 205, n. 1, p. 236, doi. 10.1111/bjh.19575
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- Article
First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 247, doi. 10.1159/000536162
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- Article
Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene.
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- Molecular Syndromology, 2024, v. 15, n. 3, p. 257, doi. 10.1159/000536069
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- Article
Nörofibromatozis tip 1 yeni tanı kriterlerine sahip çocukluk çağındaki hastaların klinik ve moleküler özellikleri.
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- Ege Journal of Medicine, 2024, v. 63, n. 1, p. 115, doi. 10.19161/etd.1200311
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- Article
Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene.
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- Molecular Syndromology, 2024, v. 15, n. 2, p. 161, doi. 10.1159/000533733
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- Article
Kabuki Syndrome; Clinical and Genetic Diagnosis.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 80
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- Article
A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 173, doi. 10.1002/ajmg.a.63010
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- Article
A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2022, v. 14, n. 4, p. 475, doi. 10.4274/jcrpe.galenos.2021.2021.0099
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- Article
From cataract to syndrome diagnosis: Revaluation of Warburg‐Micro syndrome Type 1 patients.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2325, doi. 10.1002/ajmg.a.62234
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- Article