Abdullah U - Search Results

1

Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy.

Ilyas M, Holzwarth D, Ishaq R, Ali Y, Habiba U, Raja AM, Saeed S, Abdullah U, Khan SN, Ullah A, Raja GK, Baig SM, Fazeli W, Kunz WS, Shaiq PA. Ilyas M, et al. Among authors: abdullah u. Seizure. 2024 Mar;116:74-80. doi: 10.1016/j.seizure.2023.07.020. Epub 2023 Jul 27. Seizure. 2024. PMID: 37574425

2

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.

Sher M, Farooq M, Abdullah U, Ali Z, Faryal S, Zakaria M, Ullah F, Bukhari H, Møller RS, Tommerup N, Baig SM. Sher M, et al. Among authors: abdullah u. Int J Neurosci. 2019 Sep;129(9):890-895. doi: 10.1080/00207454.2019.1586686. Epub 2019 Mar 20. Int J Neurosci. 2019. PMID: 30892110

3

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

Ali Z, Zulfiqar S, Klar J, Wikström J, Ullah F, Khan A, Abdullah U, Baig S, Dahl N. Ali Z, et al. Among authors: abdullah u. BMC Med Genet. 2017 Dec 6;18(1):144. doi: 10.1186/s12881-017-0504-6. BMC Med Genet. 2017. PMID: 29207948 Free PMC article.

4

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.

Zakaria M, Fatima A, Klar J, Wikström J, Abdullah U, Ali Z, Akram T, Tariq M, Ahmad H, Schuster J, Baig SM, Dahl N. Zakaria M, et al. Among authors: abdullah u. Hum Mutat. 2019 Jul;40(7):899-903. doi: 10.1002/humu.23755. Epub 2019 May 24. Hum Mutat. 2019. PMID: 30927481

5

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.

Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-López C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N. Fatima A, et al. Among authors: abdullah u. Am J Hum Genet. 2021 Apr 1;108(4):739-748. doi: 10.1016/j.ajhg.2021.02.015. Epub 2021 Mar 11. Am J Hum Genet. 2021. PMID: 33711248 Free PMC article.

6

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.

Faryal S, Farooq M, Abdullah U, Ali Z, Saadi SM, Ullah F, Khan K, Sarwar Y, Sher M, Chopra AA, Tommerup N, Baig SM. Faryal S, et al. Among authors: abdullah u. Eur J Med Genet. 2021 Jul;64(7):104226. doi: 10.1016/j.ejmg.2021.104226. Epub 2021 Apr 16. Eur J Med Genet. 2021. PMID: 33872773 Review.

7

Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families.

Fatima A, Abdullah U, Farooq M, Mang Y, Mehrjouy MM, Asif M, Ali Z, Tommerup N, Baig SM. Fatima A, et al. Among authors: abdullah u. Genes (Basel). 2021 Nov 26;12(12):1899. doi: 10.3390/genes12121899. Genes (Basel). 2021. PMID: 34946848 Free PMC article.

8

A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.

Gauhar Z, Tejwani L, Abdullah U, Saeed S, Shafique S, Badshah M, Choi J, Dong W, Nelson-Williams C, Lifton RP, Lim J, Raja GK. Gauhar Z, et al. Among authors: abdullah u. Cells. 2022 Sep 30;11(19):3090. doi: 10.3390/cells11193090. Cells. 2022. PMID: 36231052 Free PMC article.

9

Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.

Asif M, Anayat M, Tariq F, Noureen T, Din GNU, Becker C, Becker K, Thiele H, Makhdoom EUH, Shaiq PA, Baig SM, Nürnberg P, Hussain MS, Raja GK, Abdullah U. Asif M, et al. Among authors: abdullah u. Genes (Basel). 2022 Dec 23;14(1):48. doi: 10.3390/genes14010048. Genes (Basel). 2022. PMID: 36672789 Free PMC article.

10

Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.

Duan R, Marafi D, Xia ZJ, Ng BG, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Posey JE, Houlden H, Lupashin VV, Zaki MS, Freeze HH, Lupski JR. Duan R, et al. Among authors: abdullah u. J Inherit Metab Dis. 2023 Nov;46(6):1195-1205. doi: 10.1002/jimd.12679. Epub 2023 Oct 5. J Inherit Metab Dis. 2023. PMID: 37711075 Free PMC article.

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