Key Metrics
CiteScore 

2.1
Impact Factor 

< 5
SJR 

Q4Genetics

SNIP 

0.69
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Topics Covered on Molecular Syndromology
Molecular Syndromology Journal Specifications
| Overview | |
| Publisher | KARGER |
| Language | English |
| Frequency | Bi-monthly |
| General Details | |
| Language | English |
| Frequency | Bi-monthly |
| Publication Start Year | 2010 |
| Publisher URL | Visit website |
| Website URL | Visit website |
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Recently Published Papers in Molecular Syndromology
Highlighting the Impact of Structural Genome Variants in Medical Genetics
- 18 Jul 2026
- Molecular Syndromology
A Novel Homozygous GALNT3 Deletion in Hyperphosphatemic Familial Tumoral Calcinosis Presenting with Subcutaneous Calcifications and Raynaud's Phenomenon in an Adult Patient: A Case Report.
- 30 Jun 2026
- Molecular syndromology
Remarkable Clinical Improvement after Folinic Acid Supplementation in Cerebral Folate Transport Deficiency and Epileptic Encephalopathy: A Case Report
- 18 Jun 2026
- Molecular Syndromology
Unraveling the Genetic Basis of Glycogen Storage Diseases through Exome Sequencing: A Study in Pediatric Patients
- 16 Jun 2026
- Molecular Syndromology
Hypomelanosis of Ito with Local Overgrowth due to a Somatic Complex MTOR Gene Variant Consistent with Smith-Kingsmore Syndrome in One of Monozygotic Twins Detectable Only by RNA Sequencing: A Case Report
- 16 Jun 2026
- Molecular Syndromology
Evaluation of the Impact of a PUS7 Gene Variant on Dental Development: A Rare Case Report
- 16 Jun 2026
- Molecular Syndromology
Highlighting the Impact of Structural Genome Variants in Medical Genetics
- 18 Jul 2026
- Molecular Syndromology
A Novel Homozygous GALNT3 Deletion in Hyperphosphatemic Familial Tumoral Calcinosis Presenting with Subcutaneous Calcifications and Raynaud's Phenomenon in an Adult Patient: A Case Report.
- 30 Jun 2026
- Molecular syndromology
Remarkable Clinical Improvement after Folinic Acid Supplementation in Cerebral Folate Transport Deficiency and Epileptic Encephalopathy: A Case Report
- 18 Jun 2026
- Molecular Syndromology
Unraveling the Genetic Basis of Glycogen Storage Diseases through Exome Sequencing: A Study in Pediatric Patients
- 16 Jun 2026
- Molecular Syndromology
Hypomelanosis of Ito with Local Overgrowth due to a Somatic Complex MTOR Gene Variant Consistent with Smith-Kingsmore Syndrome in One of Monozygotic Twins Detectable Only by RNA Sequencing: A Case Report
- 16 Jun 2026
- Molecular Syndromology
Evaluation of the Impact of a PUS7 Gene Variant on Dental Development: A Rare Case Report
- 16 Jun 2026
- Molecular Syndromology
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