Works matching IS 16618769 AND DT 2020 AND VI 11 AND IP 5/6
Results: 12
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 1, doi. 10.1159/000513874
- Publication type:
- Article
Contents Vol. 11, 2020.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. I, doi. 10.1159/000513765
- Publication type:
- Article
Chromothripsis and Duplications as Underappreciated Genomic Gremlins.
- Published in:
- 2020
- By:
- Publication type:
- Editorial
Language Impairment with a Partial Duplication of DOCK8.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 243, doi. 10.1159/000511972
- By:
- Publication type:
- Article
Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 296, doi. 10.1159/000511609
- By:
- Publication type:
- Article
A Case of UDP-Galactose 4′-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 320, doi. 10.1159/000511343
- By:
- Publication type:
- Article
A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 315, doi. 10.1159/000510994
- By:
- Publication type:
- Article
Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 271, doi. 10.1159/000510910
- By:
- Publication type:
- Article
Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 302, doi. 10.1159/000510481
- By:
- Publication type:
- Article
Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 309, doi. 10.1159/000510480
- By:
- Publication type:
- Article
A Deep Intronic Variant Activates a Pseudoexon in the MTM1Gene in a Family with X-Linked Myotubular Myopathy.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 264, doi. 10.1159/000510286
- By:
- Publication type:
- Article
Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 284, doi. 10.1159/000510428
- By:
- Publication type:
- Article