Latest Research in Skin and Cellular Biology Research

15 research papers · 2026 median publication year

Top Research Topics in Skin and Cellular Biology Research

Highest-Cited Papers

  1. PATAU SINDROMI (TRISOMIYA 13)
  2. Comparative analysis of amino acid profiles across pediatric groups stratified by asthma and IgE-dependent allergy showed differences in serum asparagine levels
  3. Prenatal diagnosis of fetal structure anomalies using whole exome sequencing
  4. Mapping the development pipeline of genomic point-of-care tests: a horizon scan
  5. Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds
  6. Gene therapy benefits in a small cohort of symptomatic 5q spinal muscular atrophy patients and real world pediatric outcomes
  7. Identification and Functional Characteristics of NR5A1 Gene Variant in Patients with 46,XY Disorders of Sex Development
  8. Atypical forms of amyotrophic lateral sclerosis
  9. Genetic Screening of Colombian Patients With Early-Onset Parkinson Disease
  10. The WNT/β-catenin Pathway and Matrix Metalloproteinase-9 in hypermobile Ehlers-Danlos Syndrome and Autism Spectrum Disorder: A Possible Connection.
  11. Whole-exome sequencing-based carrier screening in Chinese Han infertile couples attempting assisted reproductive technology: an exploratory, single-center retrospective descriptive study
  12. Machine Learning approaches for the detection of disease-causing variants in whole-genome data need to address the expression of functional genes
  13. Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications
  14. Integrative genomic analysis reveals candidate genes and potential molecular mechanisms in carotid atherosclerosis
  15. Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics
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L3 Region - - 2026 Sep Q3

Skin and Cellular Biology Research

15 papers

Top Topics (10)

Genomics and Rare Diseases3
Skin and Cellular Biology Research1
Food Allergy and Anaphylaxis Research1
Genomic variations and chromosomal abnormalities1
Metabolism and Genetic Disorders1
Neurogenetic and Muscular Disorders Research1
Sexual Differentiation and Disorders1
Amyotrophic Lateral Sclerosis Research1
Connective tissue disorders research1
Cystic Fibrosis Research Advances1

Top Publications (15)

1.PATAU SINDROMI (TRISOMIYA 13)2.Comparative analysis of amino acid profiles across pediatric groups stratified by asthma and IgE-dependent allergy showed differences in serum asparagine levels3.Prenatal diagnosis of fetal structure anomalies using whole exome sequencing4.Mapping the development pipeline of genomic point-of-care tests: a horizon scan5.Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds6.Gene therapy benefits in a small cohort of symptomatic 5q spinal muscular atrophy patients and real world pediatric outcomes7.Identification and Functional Characteristics of NR5A1 Gene Variant in Patients with 46,XY Disorders of Sex Development8.Atypical forms of amyotrophic lateral sclerosis9.Genetic Screening of Colombian Patients With Early-Onset Parkinson Disease10.The WNT/β-catenin Pathway and Matrix Metalloproteinase-9 in hypermobile Ehlers-Danlos Syndrome and Autism Spectrum Disorder: A Possible Connection.11.Whole-exome sequencing-based carrier screening in Chinese Han infertile couples attempting assisted reproductive technology: an exploratory, single-center retrospective descriptive study12.Machine Learning approaches for the detection of disease-causing variants in whole-genome data need to address the expression of functional genes13.Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications14.Integrative genomic analysis reveals candidate genes and potential molecular mechanisms in carotid atherosclerosis15.Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics
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