Journal of Genetic Syndromes & Gene Therapy
Open Access

High Impact List of Articles

• 4q- Deletion Syndrome: Psychiatric Symptoms in a Rare Chromosomal Disorder
  Maria Emília Pereira, Ricardo Caetano Silva, Ana Velosa and Bernardo Barahona-Corrêa

  Case Report: Journal of Genetic Syndromes & Gene Therapy

• Novel Mutation-Deletion in the PHOX2B Gene of the Patient Diagnosed with Neuroblastoma, Hirschsprungs Disease, and Congenital Central Hypoventilation Syndrome (NB-HSCR- CCHS) Cluster
  Izabela Szymonska, Thore Langfeldt Borgenvik, Tina Margrethe Karlsvik, Anders Halsen, Bianka Kathryn Malecki, Sindre Ervik Saetre, Mateusz Jagla, Piotr Kruczek, Anna Madetko Talowska, Grazyna Drabik, Magdalena Zasada and Marek Malecki

  Research Article: Journal of Genetic Syndromes & Gene Therapy

• Proteus Syndrome: Case Report from Karachi, Pakistan
  Iqra Khan, Maroof Hassan, Amjad Siraj Memon and Akhtar Amin Memon

  Case Report: Journal of Genetic Syndromes & Gene Therapy

• Oxidative stress in Down Syndrome
  Zafrilla P, Cerda B, Soler A, Xandri JM, Martinez-Cachá A and Mulero J

  Research Article: Journal of Genetic Syndromes & Gene Therapy

• Treatment of Electrical Storm with Amiodarone in Brugada Syndrome- an Unexpected Protective Effect
  Novak J and Lambiase PD

  Case Report: Journal of Genetic Syndromes & Gene Therapy

• The Occurrence of Hermansky Pudlak Syndrome in Patients with Idiopathic Pulmonary Fibrosis-A Cohort Study
  van der Vis JJ, ten Klooster L, van Oosterhout MFM, Grutters JC and van Moorsel CHM

  Research Article: Journal of Genetic Syndromes & Gene Therapy

Conference Proceedings

• Macrophage activation syndrome and acquired hemophagocytic lymphohistiocytosis in adults: A Philadelphia cohort
  Irene Tan

  Scientific Tracks Abstracts: Journal of Genetic Syndromes & Gene Therapy

• 45,X / 46,X,i (X) (q10) Isochromosome Xq in mosaic turner syndrome: A case report
  Mark Ramon Victor B. Llanes, MD, May Uyking-Naranjo

  Posters & Accepted Abstracts: Journal of Genetic Syndromes & Gene Therapy

• Large-single scale mitochondrial DNA deletions in different tissues of patients with Kearns-Sayre syndrome
  Yuqing shi,

  Posters & Accepted Abstracts: Journal of Genetic Syndromes & Gene Therapy

• Short bowel syndrome is a rare disease gaining popularity
  Andrew E Jablonski

  Posters & Accepted Abstracts: Journal of Genetic Syndromes & Gene Therapy

• Decreased platelet serotonin level and polymorphisms of serotonin transporter in patients with Sjogren's syndrome
  Helena Sarac

  Scientific Tracks Abstracts: Journal of Genetic Syndromes & Gene Therapy

Relevant Topics in Genetics & Molecular Biology