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Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
Samra N, Jansen NS, Morani I, Kakun RR, Zaid R, Paperna T, Garcia-Dominguez M, Viner Y, Frankenthal H, Shinwell ES, Portnov I, Bakry D, Shalata A, Shapira Rootman M, Kidron D, Claessens LA, Wevers RA, Mandel H, Vertegaal ACO, Weiss K. Samra N, et al. Among authors: morani i. J Med Genet. 2023 Nov;60(11):1133-1141. doi: 10.1136/jmg-2023-109267. Epub 2023 Jul 17. J Med Genet. 2023. PMID: 37460201
[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].
Nasser Samra N, Morani I, Bayan H, Bakry D, Shaalan M, Saadi H, Beni Shrem S, Sawaed A, Kok G, Muffels IJ, Fuchs SA, Shapira-Rootman M, Mor-Shaked H, Mandel H. Nasser Samra N, et al. Among authors: morani i. Harefuah. 2023 Jun;162(6):344-351. Harefuah. 2023. PMID: 37394435 Hebrew.
Functional assessment and rehabilitation protocol in acute patients affected by SARS-CoV-2 infection hospitalized in the Intensive Care Unit and in the Medical Care Unit.
Ricotti S, Petrucci L, Carenzio G, Carlisi E, DI Natali G, DE Silvestri A, Lisi C; Covid Rehabilitation Group. Ricotti S, et al. Eur J Phys Rehabil Med. 2022 Apr;58(2):316-323. doi: 10.23736/S1973-9087.21.06897-0. Epub 2021 Oct 4. Eur J Phys Rehabil Med. 2022. PMID: 34605619 Free PMC article.
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.
Samra N, Toubiana S, Yttervik H, Tzur-Gilat A, Morani I, Itzkovich C, Giladi L, Abu Jabal K, Cao JZ, Godley LA, Mory A, Baris Feldman H, Tveten K, Selig S, Weiss K. Samra N, et al. Among authors: morani i. J Hum Genet. 2021 Nov;66(11):1101-1112. doi: 10.1038/s10038-021-00931-z. Epub 2021 May 13. J Hum Genet. 2021. PMID: 33980986