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

Year Number of Results
2011 2
2012 5
2013 5
2014 3
2015 4
2016 9
2017 10
2018 6
2020 7
2021 5
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51 results
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Page 1
Newborn Screening for Lysosomal Storage Disorders.
Peake RW, Bodamer OA. Peake RW, et al. J Pediatr Genet. 2017 Mar;6(1):51-60. doi: 10.1055/s-0036-1593843. Epub 2016 Dec 2. J Pediatr Genet. 2017. PMID: 28180027 Free PMC article. Review.
A retrospective study of adult patients with noncirrhotic hyperammonemia.
Stergachis AB, Mogensen KM, Khoury CC, Lin AP, Peake RW, Baker JJ, Barkoudah E, Sahai I, Sweetser DA, Berry GT, Krier JB. Stergachis AB, et al. Among authors: peake rw. J Inherit Metab Dis. 2020 Nov;43(6):1165-1172. doi: 10.1002/jimd.12292. Epub 2020 Aug 16. J Inherit Metab Dis. 2020. PMID: 32713002
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Alharby E, Faqeih EA, Saleh M, Alameer S, Almuntashri M, Pastore A, Samman MA, Alnawfal AM, Hashem M, Zaytuni D, Alharbi G, Almannai M, Alasmari A, Mahmoud AA, Alwadei AH, Jad L, AlOtaibi A, Al-Hakami F, Eyaid W, Alkuraya FS, Alfadhel M, Peake RWA, Almontashiri NAM. Alharby E, et al. Among authors: peake rwa. Genet Med. 2020 Dec;22(12):2071-2080. doi: 10.1038/s41436-020-0919-x. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741967
Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn.
Almannai M, Aldehaimi A, Peake RWA, Almontashiri NAM. Almannai M, et al. Among authors: peake rwa. Clin Chem. 2021 Jan 8;67(1):327-330. doi: 10.1093/clinchem/hvaa151. Clin Chem. 2021. PMID: 33418581 No abstract available.
A Case of Severe Neonatal Hyperammonemia.
Peake RWA, Neilan EG. Peake RWA, et al. Clin Chem. 2017 Aug;63(8):1420-1422. doi: 10.1373/clinchem.2017.274209. Clin Chem. 2017. PMID: 28751323 No abstract available.
Dilated Cardiomyopathy in a 2-Year-Old Infant.
Peake RW, Daly KP. Peake RW, et al. Clin Chem. 2017 Jan;63(1):433-435. doi: 10.1373/clinchem.2016.268508. Clin Chem. 2017. PMID: 28062634 No abstract available.
New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.
Alhebbi H, Peer-Zada AA, Al-Hussaini AA, Algubaisi S, Albassami A, AlMasri N, Alrusayni Y, Alruzug IM, Alharby E, Samman MA, Ayoub SZ, Maddirevula S, Peake RWA, Alkuraya FS, Wali S, Almontashiri NAM. Alhebbi H, et al. Among authors: peake rwa. J Hum Genet. 2021 Feb;66(2):151-159. doi: 10.1038/s10038-020-0811-1. Epub 2020 Aug 6. J Hum Genet. 2021. PMID: 32759993
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