Front & Back Matter.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 1, doi. 10.1159/000539663
- Publication type:
- Article
Works matching IS 16618769 AND DT 2024 AND VI 15 AND IP 3
Results: 13
1
2
Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 202, doi. 10.1159/000535590
- By:
- Publication type:
- Article
3
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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- Publication type:
- Article
4
Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 194, doi. 10.1159/000535888
- By:
- Publication type:
- Article
5
Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 185, doi. 10.1159/000535853
- By:
- Publication type:
- Article
6
Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 240, doi. 10.1159/000535682
- By:
- Publication type:
- Article
7
A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 251, doi. 10.1159/000536072
- By:
- Publication type:
- Article
8
Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 257, doi. 10.1159/000536069
- By:
- Publication type:
- Article
9
A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 217, doi. 10.1159/000535681
- By:
- Publication type:
- Article
10
A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 232, doi. 10.1159/000535534
- By:
- Publication type:
- Article
11
Novel Mutation in the HSD17B10 Gene Accompanied by Dysmorphic Findings in Female Patients.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 211, doi. 10.1159/000535589
- By:
- Publication type:
- Article
12
Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 175, doi. 10.1159/000535407
- By:
- Publication type:
- Article
13
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 3, p. 225, doi. 10.1159/000535240
- By:
- Publication type:
- Article