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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
PLoS One. 2021 Oct 6;16(10):e0258202. doi: 10.1371/journal.pone.0258202. eCollection 2021.
PLoS One. 2021.
PMID: 34614013
Free PMC article.
Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease.
Chabchoub I, Boudabbous H, Maaloul I, Ben Abdelaziz R, Ben Chehida A, Ayadi L, Kamoun T, Tebib N, Boudaouara T, Bekri S, Hachicha M.
Chabchoub I, et al. Among authors: boudabbous h.
J Pediatr Hematol Oncol. 2020 May;42(4):310-312. doi: 10.1097/MPH.0000000000001552.
J Pediatr Hematol Oncol. 2020.
PMID: 31318819
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A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.
Ben Abdelaziz R, Ben Chehida A, Azzouz H, Boudabbous H, Lascols O, Ben Turkia H, Tebib N.
Ben Abdelaziz R, et al. Among authors: boudabbous h.
Eur J Med Genet. 2016 Jan;59(1):16-9. doi: 10.1016/j.ejmg.2015.11.015. Epub 2015 Dec 9.
Eur J Med Genet. 2016.
PMID: 26691667
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[Renal involvement in glycogen storage disease type 1: Practical issues].
Ben Chehida A, Bensmaïl T, Ben Rehouma F, Ben Abdelaziz R, Azzouz H, Boudabbous H, Slim Abdelmoula M, Abdelhak S, Kaabachi N, Ben Turkia H, Tebib N.
Ben Chehida A, et al. Among authors: boudabbous h.
Nephrol Ther. 2015 Jul;11(4):240-5. doi: 10.1016/j.nephro.2014.12.007. Epub 2015 May 6.
Nephrol Ther. 2015.
PMID: 25957470
French.
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Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Mkaouar R, Riahi Z, Marrakchi J, Mezzi N, Romdhane L, Boujemaa M, Dallali H, Sayeb M, Lahbib S, Jaouadi H, Boudabbous H, Zekri L, Chargui M, Messaoud O, Elyounsi M, Kraoua I, Zaouak A, Turki I, Mokni M, Boucher S, Petit C, Giraudet F, Mbarek C, Besbes G, Halayem S, Zainine R, Turki H, Tounsi A, Bonnet C, Mrad R, Abdelhak S, Trabelsi M, Charfeddine C.
Mkaouar R, et al. Among authors: boudabbous h.
Front Genet. 2024 Apr 22;15:1384094. doi: 10.3389/fgene.2024.1384094. eCollection 2024.
Front Genet. 2024.
PMID: 38711914
Free PMC article.
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