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Page 1
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi: 10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24.
Am J Hum Genet. 2022.
PMID: 36283405
Free PMC article.
Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study.
Global PaedSurg Research Collaboration.
Global PaedSurg Research Collaboration.
Lancet. 2021 Jul 24;398(10297):325-339. doi: 10.1016/S0140-6736(21)00767-4. Epub 2021 Jul 13.
Lancet. 2021.
PMID: 34270932
Free PMC article.
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Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Lin S, Fasham J, Al-Hijawi F, Qutob N, Gunning A, Leslie JS, McGavin L, Ubeyratna N, Baker W, Zeid R, Turnpenny PD, Crosby AH, Baple EL, Khalaf-Nazzal R.
Lin S, et al. Among authors: baker w.
Eur J Hum Genet. 2021 Oct;29(10):1570-1576. doi: 10.1038/s41431-021-00887-w. Epub 2021 May 20.
Eur J Hum Genet. 2021.
PMID: 34012134
Free PMC article.
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Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.
Khalaf-Nazzal R, Fasham J, Ubeyratna N, Evans DJ, Leslie JS, Warner TT, Al-Hijawi F, Alshaer S, Baker W, Turnpenny PD, Baple EL, Crosby AH.
Khalaf-Nazzal R, et al. Among authors: baker w.
Brain Sci. 2021 May 11;11(5):614. doi: 10.3390/brainsci11050614.
Brain Sci. 2021.
PMID: 34064836
Free PMC article.
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TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Khalaf-Nazzal R, Dweikat I, Ubeyratna N, Fasham J, Alawneh M, Leslie J, Maree M, Gunning A, Zayed DZ, Voutsina N, McGavin L, Sawafta R, Owens M, Baker W, Turnpenny P, Al-Hijawi F, Baple EL, Crosby AH, Rawlins LE.
Khalaf-Nazzal R, et al. Among authors: baker w.
Am J Med Genet A. 2024 Mar 4:e63579. doi: 10.1002/ajmg.a.63579. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38436550
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