Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2005 1
2010 2
2011 1
2012 4
2013 2
2014 1
2015 2
2016 1
2017 3
2018 3
2019 3
2020 3
2021 1
2022 1
2023 4
2024 4
2025 6

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

37 results

Results by year

Filters applied: . Clear all
Page 1
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium; Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Among authors: al ajmi a. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Nat Genet. 2020. PMID: 32367058 Free PMC article.
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Cortese A, Dohrn MF, Curro R, Negri S, Lassuthova P, Pisciotta C, Tozza S, Al-Ajmi A, Feng C, Tomaselli PJ, Fernandez-Eulate G, Haddad S, Laurà M, Rossor AM, Vegezzi E, Facchini S, Sleigh JN, Rebelo A, Beijer D, Raposo J, Saporta M, Lauerova B, Pernice HF, Achenbach P, Schöne U, Alon T, Deschauer M, Cordts I, Obermaier CD, Winter N, Creigh PD, Sowden JE, Rehbein T, Magri S, Bertini A, Saveri P, Ripellino P, Huang J, Nadaj-Pakleza A, Ross A, Holt JKL, Brennan KM, Sukenik-Halevy R, Bizaoui V, Parman Y, Battaloglu E, Cakar A, Alrohaif H, Hammans S, Kumar KR, Kennerson ML, Kayserili H, Amado DA, Hahn K, Valentino P, Cavalcanti F, Gaetano C, Taroni F, Braathen GJ, Houlden H, Stojkovic T, Peric S, Bolino A, Previtali SC, Yi-Chung L, Başak AN, Hamed SA, Rojas-Garcia R, Claeys KG, Marques W, Sevilla T, Schlotter-Weigel B, Manganelli F, Zhang R, Herrmann DN, Scherer SS, Seeman P, Pareyson D, Reilly MM, Shy ME, Züchner S. Cortese A, et al. Among authors: al ajmi a. Brain. 2025 Oct 3;148(10):3737-3747. doi: 10.1093/brain/awaf021. Brain. 2025. PMID: 39938083 Free PMC article.
SLK is mutated in individuals with a neurodevelopmental disorder.
Alabdi L, Altuwaijri N, Zhu JY, Efthymiou S, Lee H, Duan J, Salem I, Yu P, Abdullah NL, Alzahrani F, Xu Q, Felemban MM, Alfaifi A, Rahman F, Christoforou M, Maqbool S, Martinez-Agosto JA, Alsaif HS, Hashem M, Helaby R, Alsulaiman A; SYNaPS Study Group; Queen Square Genomics; Maroofian R, Houlden H, Arold ST, Ibrahim LA, Han Z, Alkuraya FS. Alabdi L, et al. EBioMedicine. 2025 Jun;116:105725. doi: 10.1016/j.ebiom.2025.105725. Epub 2025 May 9. EBioMedicine. 2025. PMID: 40347834 Free PMC article.
Exclusive Breastfeeding: Barrier analysis amongst Omani mothers.
Al-Ghannami S, Al-Mamari S, Chekaraou D, Abla C, Al-Ghmmari I, Al-Ajmi A, Al-Shammkhi S, Al-Balushi RM, Al-Mamari F, Mabry RM. Al-Ghannami S, et al. Among authors: al ajmi a. Sultan Qaboos Univ Med J. 2023 May;23(2):158-167. doi: 10.18295/squmj.5.2022.038. Epub 2023 May 31. Sultan Qaboos Univ Med J. 2023. PMID: 37377837 Free PMC article.
Prevalence of joint hypermobility in Kuwait.
Al-Jarallah K, Shehab D, Al-Jaser MT, Al-Azemi KM, Wais FF, Al-Saleh AM, Al-Ajmi AS, Al-Omairah HA, Abraham M, Sharma PN. Al-Jarallah K, et al. Among authors: al ajmi as. Int J Rheum Dis. 2017 Aug;20(8):935-940. doi: 10.1111/1756-185X.12556. Epub 2014 Dec 20. Int J Rheum Dis. 2017. PMID: 25529052
The role of BRCA1/2 in hereditary and familial breast and ovarian cancers.
Hawsawi YM, Al-Numair NS, Sobahy TM, Al-Ajmi AM, Al-Harbi RM, Baghdadi MA, Oyouni AA, Alamer OM. Hawsawi YM, et al. Among authors: al ajmi am. Mol Genet Genomic Med. 2019 Sep;7(9):e879. doi: 10.1002/mgg3.879. Epub 2019 Jul 17. Mol Genet Genomic Med. 2019. PMID: 31317679 Free PMC article. Review.
Reversible Ethyl Chloride Neurotoxicity: A Case Report.
Al-Ajmi AM, Morad MA, Cooper PE, Hassino LH, Siddeiq MA. Al-Ajmi AM, et al. Can J Neurol Sci. 2018 Jan;45(1):119-120. doi: 10.1017/cjn.2017.262. Epub 2017 Nov 21. Can J Neurol Sci. 2018. PMID: 29157319 No abstract available.
37 results