Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 1, p. 83, doi. 10.1159/000534380
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- Publication type:
- Article
Works matching IS 16618769 AND DT 2024 AND VI 15 AND IP 1
Results: 13
1
2
Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 1, p. 22, doi. 10.1159/000534123
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- Publication type:
- Article
3
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 1, p. 1, doi. 10.1159/000537788
- Publication type:
- Article
4
TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2.
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- Molecular Syndromology, 2024, v. 15, n. 1, p. 30, doi. 10.1159/000534100
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- Publication type:
- Article
5
A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate.
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- Molecular Syndromology, 2024, v. 15, n. 1, p. 77, doi. 10.1159/000533986
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- Publication type:
- Article
6
Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels.
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- Molecular Syndromology, 2024, v. 15, n. 1, p. 14, doi. 10.1159/000533976
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- Publication type:
- Article
7
A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 1, p. 1, doi. 10.1159/000533915
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- Publication type:
- Article
8
Analysis of Dopamine Receptor D2 Gene Polymorphism and Correlation with Dyslipidemia in the Chinese Population.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 1, p. 37, doi. 10.1159/000533637
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- Publication type:
- Article
9
Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report.
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- Molecular Syndromology, 2024, v. 15, n. 1, p. 58, doi. 10.1159/000533219
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- Publication type:
- Article
10
A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene.
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- Molecular Syndromology, 2024, v. 15, n. 1, p. 51, doi. 10.1159/000531934
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- Publication type:
- Article
11
Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 1, p. 71, doi. 10.1159/000531769
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- Publication type:
- Article
12
A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 1, p. 43, doi. 10.1159/000530585
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- Publication type:
- Article
13
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 1, p. 63, doi. 10.1159/000530410
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- Publication type:
- Article