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Page 1
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. Langhammer F, et al. Among authors: boulouiz r. Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8. Genet Med. 2023. PMID: 37165955
Patients' Knowledge and Attitude Toward Biobanks in Eastern Morocco.
Lhousni S, Daoudi F, Belmokhtar I, Belmokhtar KY, Abda N, Boulouiz R, Tajir M, Bellaoui M, Ouarzane M. Lhousni S, et al. Among authors: boulouiz r. Biopreserv Biobank. 2020 Jun;18(3):189-195. doi: 10.1089/bio.2019.0047. Epub 2020 Mar 24. Biopreserv Biobank. 2020. PMID: 32207985
Molecular heterogeneity of β-thalassemia variants in the Eastern region of Morocco.
Belmokhtar I, Lhousni S, Elidrissi Errahhali M, Ghanam A, Elidrissi Errahhali M, Sidqi Z, Ouarzane M, Charif M, Bellaoui M, Boulouiz R, Benajiba N. Belmokhtar I, et al. Among authors: boulouiz r. Mol Genet Genomic Med. 2022 Aug;10(8):e1970. doi: 10.1002/mgg3.1970. Epub 2022 May 26. Mol Genet Genomic Med. 2022. PMID: 35615994 Free PMC article.
A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.
Lhousni S, Charif M, Derouich Y, Elidrissi Errahhali M, Elidrissi Errahhali M, Ouarzane M, Lenaers G, Boulouiz R, Belahcen M, Bellaoui M. Lhousni S, et al. Among authors: boulouiz r. Bone. 2023 Oct;175:116860. doi: 10.1016/j.bone.2023.116860. Epub 2023 Jul 29. Bone. 2023. PMID: 37524292
First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array.
Elidrissi Errahhali M, Elidrissi Errahhali M, Ramdani S, Lhousni S, Benajiba N, Rkain M, Babakhouya A, Elouali A, Ghanam A, Amrani R, Messaoudi S, Ayyad A, Oneib B, Mimouni A, Saadi H, Allaoui S, Ouarzane M, Guichet A, Charif M, Boulouiz R, Bellaoui M. Elidrissi Errahhali M, et al. Among authors: boulouiz r. Arch Pediatr. 2024 Feb;31(2):112-116. doi: 10.1016/j.arcped.2023.10.002. Epub 2024 Jan 22. Arch Pediatr. 2024. PMID: 38262863
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B. Li Y, et al. Among authors: boulouiz r. Am J Hum Genet. 2010 Mar 12;86(3):479-84. doi: 10.1016/j.ajhg.2010.02.003. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170898 Free PMC article.
34 results