Works matching IS 16618769 AND DT 2023 AND VI 14 AND IP 5
Results: 10
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 5, p. 1, doi. 10.1159/000534404
- Publication type:
- Article
Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 5, p. 416, doi. 10.1159/000529807
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- Publication type:
- Article
Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 5, p. 394, doi. 10.1159/000530252
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- Publication type:
- Article
VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 5, p. 449, doi. 10.1159/000530150
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- Publication type:
- Article
Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11.
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- Molecular Syndromology, 2023, v. 14, n. 5, p. 428, doi. 10.1159/000530118
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- Publication type:
- Article
Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 5, p. 363, doi. 10.1159/000530513
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- Publication type:
- Article
Identification of High-Risk Single Nucleotide Polymorphisms in the Human CYB5R3 Gene Responsible for Recessive Congenital Methemoglobinemia: A Computational Approach.
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- Molecular Syndromology, 2023, v. 14, n. 5, p. 375, doi. 10.1159/000530173
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- Article
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 5, p. 405, doi. 10.1159/000529678
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- Publication type:
- Article
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 5, p. 433, doi. 10.1159/000529408
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- Publication type:
- Article
Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 5, p. 439, doi. 10.1159/000528744
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- Publication type:
- Article