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Page 1
Expanding the phenome and variome of skeletal dysplasia.
Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS. Maddirevula S, et al. Among authors: keng wt. Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5. Genet Med. 2018. PMID: 29620724 Free article.
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
Wilson BT, Stark Z, Sutton RE, Danda S, Ekbote AV, Elsayed SM, Gibson L, Goodship JA, Jackson AP, Keng WT, King MD, McCann E, Motojima T, Murray JE, Omata T, Pilz D, Pope K, Sugita K, White SM, Wilson IJ. Wilson BT, et al. Among authors: keng wt. Genet Med. 2016 May;18(5):483-93. doi: 10.1038/gim.2015.110. Epub 2015 Jul 23. Genet Med. 2016. PMID: 26204423 Free PMC article.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. Sadowski CE, et al. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27. J Am Soc Nephrol. 2015. PMID: 25349199 Free PMC article.
Clinical features and respiratory complications in Myhre syndrome.
McGowan R, Gulati R, McHenry P, Cooke A, Butler S, Keng WT, Murday V, Whiteford M, Dikkers FG, Sikkema-Raddatz B, van Essen T, Tolmie J. McGowan R, et al. Among authors: keng wt. Eur J Med Genet. 2011 Nov-Dec;54(6):e553-9. doi: 10.1016/j.ejmg.2011.07.001. Epub 2011 Jul 21. Eur J Med Genet. 2011. PMID: 21816239
Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes.
Yoon SY, Wong SW, Lim J, Ahmad S, Mariapun S, Padmanabhan H, Hassan NT, Lau SY, Ch'ng GS, Haniffa M, Ong WP, Rethanavelu K, Moey LH, Keng WT, Omar J, Mohd Abas MN, Yong CM, Ramasamy V, Md Noor MR, Aliyas I, Lim MCK, Suberamaniam A, Mat Adenan NA, Ahmad ZA, Ho GF, Abdul Malik R, Subramaniam S, Khoo BP, Raja A, Chin YS, Sim WW, Teh BH, Kho SK, Ong ESE, Voon PJ, Ismail G, Lee CL, Abdullah BZ, Loo KS, Lim CS, Lee SJ, Lim KJL, Shafiee MN, Ismail F, Latiff ZA, Ismail MP, Mohamed Jamli MF, Kumarasamy S, Leong KW, Low J, Md Yusof M, Ahmad Mustafa AM, Mat Ali NH, Makanjang M, Tayib S, Cheah N, Lim BK, Fong CK, Foo YC, Mellor Abdullah M, Tan TS, Chow DSY, Ho KF, Raman R, Radzi A, Deniel A, Teoh DCY, Ang SF, Joseph JK, Ng PHO, Tho LM, Ahmad AR, Muin I, Bleiker E, George A, Thong MK, Woo YL, Teo SH. Yoon SY, et al. Among authors: keng wt. J Med Genet. 2022 Mar;59(3):220-229. doi: 10.1136/jmedgenet-2020-107416. Epub 2021 Feb 1. J Med Genet. 2022. PMID: 33526602
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
Leong HY, Abdul Azize NA, Chew HB, Keng WT, Thong MK, Mohd Khalid MKN, Hung LC, Mohamed Zainudin N, Ramlee A, Md Haniffa MA, Yakob Y, Ngu LH. Leong HY, et al. Among authors: keng wt. Orphanet J Rare Dis. 2019 Jun 14;14(1):143. doi: 10.1186/s13023-019-1105-6. Orphanet J Rare Dis. 2019. PMID: 31200731 Free PMC article.
36 results