Front & Back Matter.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 1, doi. 10.1159/000541767
- Publication type:
- Article
Works matching IS 16618769 AND DT 2024 AND VI 15 AND IP 5
Results: 13
1
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De novoAHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 389, doi. 10.1159/000538918
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- Publication type:
- Article
3
Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous NAPB Gene Variant.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 437, doi. 10.1159/000538741
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- Publication type:
- Article
4
Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 380, doi. 10.1159/000538676
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- Publication type:
- Article
5
Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.*2364G>A) and LIF Polymorphism (c.*1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 371, doi. 10.1159/000538653
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- Publication type:
- Article
6
A 37-kb Deletion in Region 16p13.3 in an Infant with Osteopetrosis and Congenital Diarrhea Including the CLCN7 and PERCC1 Genes.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 427, doi. 10.1159/000538395
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- Publication type:
- Article
7
Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 362, doi. 10.1159/000538300
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- Publication type:
- Article
8
Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 432, doi. 10.1159/000538225
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- Publication type:
- Article
9
Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 421, doi. 10.1159/000538115
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- Publication type:
- Article
10
EEF2-Related Neurodevelopmental Disorder Is Clinically Recognizable.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 403, doi. 10.1159/000538059
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- Publication type:
- Article
11
A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 355, doi. 10.1159/000538039
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- Publication type:
- Article
12
Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 398, doi. 10.1159/000538015
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- Publication type:
- Article
13
A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 409, doi. 10.1159/000537869
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- Publication type:
- Article