Front & Back Matter.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 1, doi. 10.1159/000526180
- Publication type:
- Article
Works matching IS 16618769 AND DT 2022 AND VI 13 AND IP 4
Results: 14
1
2
The Expanding Phenotypic Spectrum of NUP188 Variants Points Toward Multiple Biological Pathways.
- Published in:
- 2022
- By:
- Publication type:
- Editorial
3
Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in TRAPPC9 Gene and Literature Review.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 263, doi. 10.1159/000522041
- By:
- Publication type:
- Article
4
Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 350, doi. 10.1159/000521516
- By:
- Publication type:
- Article
5
A Boy with Sandestig-Stefanova Syndrome and Genital Abnormalities.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 343, doi. 10.1159/000521331
- By:
- Publication type:
- Article
6
Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 270, doi. 10.1159/000521330
- By:
- Publication type:
- Article
7
Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a POLR1D p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 328, doi. 10.1159/000521173
- By:
- Publication type:
- Article
8
A Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 332, doi. 10.1159/000520553
- By:
- Publication type:
- Article
9
Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 323, doi. 10.1159/000520389
- By:
- Publication type:
- Article
10
Novel Pathogenic Variant (c.1171A>T) in PHF21A in a Female with Intellectual Disability and Craniofacial Anomalies.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 318, doi. 10.1159/000520207
- By:
- Publication type:
- Article
11
Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 337, doi. 10.1159/000520042
- By:
- Publication type:
- Article
12
Proteomic Analysis of m.8296A>G Variation in the Mitochondrial tRNA<sup>Lys</sup> Gene.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 305, doi. 10.1159/000519526
- By:
- Publication type:
- Article
13
Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 282, doi. 10.1159/000519326
- By:
- Publication type:
- Article
14
Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 4, p. 290, doi. 10.1159/000518872
- By:
- Publication type:
- Article