Works matching IS 16618769 AND DT 2024 AND VI 15 AND IP 6
Results: 16
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 6, p. 1, doi. 10.1159/000542970
- Publication type:
- Article
Acknowledgement to Reviewers.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 6, p. 547, doi. 10.1159/000542125
- Publication type:
- Article
Erratum.
- Published in:
- 2024
- Publication type:
- Correction Notice
Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 6, p. 537, doi. 10.1159/000539400
- By:
- Publication type:
- Article
Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 6, p. 474, doi. 10.1159/000539364
- By:
- Publication type:
- Article
Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the AHCY Gene.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 6, p. 531, doi. 10.1159/000539280
- By:
- Publication type:
- Article
A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 6, p. 443, doi. 10.1159/000539279
- By:
- Publication type:
- Article
Investigation of Genetic Changes in Three Families with Bipolar Disease.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 6, p. 464, doi. 10.1159/000539115
- By:
- Publication type:
- Article
Two-Compound Heterozygous Deletions Affecting TUBGCP6 in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 6, p. 503, doi. 10.1159/000539099
- By:
- Publication type:
- Article
Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 6, p. 450, doi. 10.1159/000539034
- By:
- Publication type:
- Article
Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 6, p. 495, doi. 10.1159/000538979
- By:
- Publication type:
- Article
RMND1 Mutation Case Report and Literature Review.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 6, p. 487, doi. 10.1159/000538930
- By:
- Publication type:
- Article
Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 6, p. 517, doi. 10.1159/000538917
- By:
- Publication type:
- Article
A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 6, p. 481, doi. 10.1159/000538900
- By:
- Publication type:
- Article
Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 6, p. 523, doi. 10.1159/000538012
- By:
- Publication type:
- Article
Erratum.
- Published in:
- 2024
- Publication type:
- Correction Notice