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Published in Journal of human genetics (01.11.2021)
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Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia
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Published in Journal of medical genetics (01.11.2023)
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NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL
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Published in הרפואה (01.06.2023)
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Published in הרפואה (01.06.2023)
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