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A novel variant in the LIPA gene associated with distinct phenotype

A. Sarajlija

A. Sarajlija

  • Mother and Child Health Care Institute of Serbia “Dr. Vukan Cupic”, Pediatric Day Care HospitalBelgrade, Serbia
  • School of Medicine, University of BelgradeBelgrade, Serbia
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Sarajlija, A.
, 
L. Armengol

L. Armengol

Quantitative Genomic Medicine Laboratories (qGenomics)Esplugues del Llobregat, Spain
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Armengol, L.
, 
A. Maver

A. Maver

Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Maver, A.
, 
I. Kitic

I. Kitic

  • Mother and Child Health Care Institute of Serbia “Dr. Vukan Cupic”, Department of Gastroenterology and HepatologyBelgrade, Serbia
  • School of Medicine, University of BelgradeBelgrade, Serbia
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Kitic, I.
, 
D. Prokic

D. Prokic

  • Mother and Child Health Care Institute of Serbia “Dr. Vukan Cupic”, Department of Gastroenterology and HepatologyBelgrade, Serbia
  • School of Medicine, University of BelgradeBelgrade, Serbia
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Prokic, D.
, 
M. Cehic

M. Cehic

Mother and Child Health Care Institute of Serbia “Dr. Vukan Cupic”, Pediatric Day Care HospitalBelgrade, Serbia
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Cehic, M.
, 
M.S. Djuricic

M.S. Djuricic

  • Mother and Child Health Care Institute of Serbia “Dr. Vukan Cupic”, Department of Clinical PathologyBelgrade, Serbia
  • Faculty of Medicine, University of Banja LukaBanja Luka, Bosnia and Herzegovina
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Djuricic, M.S.
 et 
B. Peterlin

B. Peterlin

Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Peterlin, B.
  
01 mars 2023
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Catégorie d'article: Case Report
Publié en ligne: 01 mars 2023
Pages: 93 - 100
DOI: https://doi.org/10.2478/bjmg-2022-0010
Mots clés
© 2022 Sarajlija A., Armengol L., Maver A., Kitic I., Prokic D., Cehic M., Djuricic M.S., Peterlin B., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
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Sujets de la revue:
Médecine, Sciences médicales de base, Sciences médicales de base, autres
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