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Molecular Syndromology : Impact Factor & More

eISSN: 1661-8777pISSN: 1661-8769

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
LanguageEnglish
FrequencyBi-monthly
Publication Start Year2010
Publisher URLVisit website
Website URLVisit 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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