Works matching IS 16618769 AND DT 2023 AND VI 14 AND IP 6
Results: 15
Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 459, doi. 10.1159/000531668
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- Article
Front & Back Matter.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 1, doi. 10.1159/000535673
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- Article
Contents Vol. 14, 2023.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 531, doi. 10.1159/000535256
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- Article
Acknowledgement to Reviewers.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 530, doi. 10.1159/000534746
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- Article
Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 523, doi. 10.1159/000531715
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- Article
Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 516, doi. 10.1159/000531566
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- Article
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 477, doi. 10.1159/000531507
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- Article
SDHA Variants Can Only Be Classified as Causative Once Their Pathogenicity Has Been Proven.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 457, doi. 10.1159/000531506
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- Article
TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 485, doi. 10.1159/000531439
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- Article
Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 509, doi. 10.1159/000531429
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- Article
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 504, doi. 10.1159/000531408
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- Article
Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 469, doi. 10.1159/000531069
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- Article
A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 498, doi. 10.1159/000530798
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- Article
Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 461, doi. 10.1159/000530625
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- Article
Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 493, doi. 10.1159/000530586
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- Article