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Results by year

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

Year Number of Results
1993 2
1998 3
1999 1
2000 1
2001 1
2004 3
2005 3
2006 5
2007 2
2008 1
2009 1
2010 3
2011 1
2012 2
2013 8
2014 6
2015 5
2016 3
2017 2
2018 8
2019 5
2020 11
2021 13
2022 14
2023 0
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Publication date

Search Results

88 results
Results by year
Filters applied: . Clear all
Page 1
Williams-Beuren syndrome in diverse populations.
Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M. Kruszka P, et al. Among authors: lo ifm. Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672. Am J Med Genet A. 2018. PMID: 29681090 Free PMC article.
Strømme Syndrome.
Ho SKL, Leung LT, Luk HM, Lo IFM. Ho SKL, et al. Among authors: lo ifm. 2022 Nov 10. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2022 Nov 10. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 36375007 Free Books & Documents. Review.
CTNNB1 Neurodevelopmental Disorder.
Ho SKL, Tsang MHY, Lee M, Cheng SSW, Luk HM, Lo IFM, Chung BHY. Ho SKL, et al. Among authors: lo ifm. 2022 May 19. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2022 May 19. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 35593792 Free Books & Documents. Review.
KBG syndrome in a Chinese population: A case series.
Ho S, Luk HM, Lo IFM. Ho S, et al. Among authors: lo ifm. Am J Med Genet A. 2022 Jun;188(6):1693-1699. doi: 10.1002/ajmg.a.62688. Epub 2022 Feb 17. Am J Med Genet A. 2022. PMID: 35174959
Coffin-Lowry syndrome in Chinese.
Fung JLF, Rethanavelu K, Luk HM, Ho MSP, Lo IFM, Chung BHY. Fung JLF, et al. Among authors: lo ifm. Am J Med Genet A. 2019 Oct;179(10):2043-2048. doi: 10.1002/ajmg.a.61323. Epub 2019 Aug 9. Am J Med Genet A. 2019. PMID: 31400053
Rubinstein-Taybi syndrome in diverse populations.
Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Moresco A, Huckstadt V, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Diaz-Kuan A, Thong MK, Obregon MG, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P. Tekendo-Ngongang C, et al. Among authors: lo ifm. Am J Med Genet A. 2020 Dec;182(12):2939-2950. doi: 10.1002/ajmg.a.61888. Epub 2020 Sep 27. Am J Med Genet A. 2020. PMID: 32985117
Prenatal phenotype of Kabuki syndrome: A case series and literature review.
So PL, Luk HM, Cheung KW, Hui W, Chung MY, Mak ASL, Lok WY, Yu KPT, Cheng SSW, Hau EWL, Ho S, Lam STS, Lo IFM. So PL, et al. Among authors: lo ifm. Prenat Diagn. 2021 Aug;41(9):1089-1100. doi: 10.1002/pd.5998. Epub 2021 Jul 3. Prenat Diagn. 2021. PMID: 34185329 Review.
88 results