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Author/Creator Iwaszkiewicz, Justyna

1. Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature. (4th March 2020)

Authors:
Ansar, Muhammad; Ebstein, Frédéric; Özkoç, Hayriye; Paracha, Sohail A; Iwaszkiewicz, Justyna; Gesemann, Matthias; Zoete, Vincent; Ranza, Emmanuelle; Santoni, Federico A; Sarwar, Muhammad T; Ahmed, Jawad; Krüger, Elke; Bachmann-Gagescu, Ruxandra; Antonarakis, Stylianos E
Journal:
Human molecular genetics
Issue:
Volume 29:Number 7(2020)
Page Start:
1132
Record Type:
Journal Article
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2. Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2. Issue 1 (9th March 2021)

Authors:
Antonarakis, Stylianos E; Holoubek, Aleš; Rapti, Melivoia; Rademaker, Jesse; Meylan, Jenny; Iwaszkiewicz, Justyna; Zoete, Vincent; Wilson, Callum; Taylor, Juliet; Ansar, Muhammad; Borel, Christelle; Menzel, Olivier; Kuželová, Kateřina; Santoni, Federico A
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 1(2022)
Page Start:
1
Record Type:
Journal Article
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3. Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. (31st December 2019)

Authors:
Ansar, Muhammad; Ranza, Emmanuelle; Shetty, Madhur; Paracha, Sohail A; Azam, Maleeha; Kern, Ilse; Iwaszkiewicz, Justyna; Farooq, Omer; Pournaras, Constantin J; Malcles, Ariane; Kecik, Mateusz; Rivolta, Carlo; Muzaffar, Waqar; Qurban, Aziz; Ali, Liaqat; Aggoun, Yacine; Santoni, Federico A; Makryth...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 4(2020)
Page Start:
618
Record Type:
Journal Article
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4. The CAP1/Prss8 catalytic triad is not involved in PAR2 activation and protease nexin‐1 (PN‐1) inhibition. Issue 11 (19th August 2014)

Authors:
Crisante, Giovanna; Battista, Laura; Iwaszkiewicz, Justyna; Nesca, Valeria; Mérillat, Anne‐Marie; Sergi, Chloé; Zoete, Vincent; Frateschi, Simona; Hummler, Edith
Journal:
FASEB journal
Issue:
Volume 28:Issue 11(2014)
Page Start:
4792
Record Type:
Journal Article
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5. Tumor targeting of innate and adaptive immunity by the adoptive cell transfer of engineered T lymphocytes co-expressing iNKT and tumor-specific MHC-I TCRs. (6th November 2014)

Authors:
Tschumi, Benjamin O; Iwaszkiewicz, Justyna; Zhang, Lianjun; Corgnac, Stéphanie; Mach, Jean-Pierre; Romero, Pedro; Donda, Alena
Journal:
Journal for immunotherapy of cancer
Issue:
Volume 2(2014)Supplement 3
Page Start:
Record Type:
Journal Article
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