Lam ST - Search Results

1

A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies.

Chung BH, Luk HM, Lo IF, Lam ST, Li RH. Chung BH, et al. Among authors: lam st. Am J Med Genet A. 2013 Apr;161A(4):918-20. doi: 10.1002/ajmg.a.35793. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495189 No abstract available.

2

Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.

Yu KPT, Luk HM, Leung GKC, Mak CCY, Cheng SSW, Hau EWL, Chan DKH, Lam STS, Tong TMF, Chung BHY, Lo IFM. Yu KPT, et al. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):208-217. doi: 10.1002/ajmg.c.31692. Epub 2019 Mar 21. Am J Med Genet C Semin Med Genet. 2019. PMID: 30896080

3

Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong.

So PL, Luk HM, Yu KPT, Cheng SSW, Hau EWL, Ho SKL, Lam STS, Lo IFM. So PL, et al. Am J Med Genet A. 2021 Mar;185(3):675-686. doi: 10.1002/ajmg.a.62003. Epub 2020 Dec 13. Am J Med Genet A. 2021. PMID: 33314698

4

XX-agonadism in a fetus with multiple congenital anomalies.

Woo HH, Lo IF, Tse HY, Lam ST, Tang CH. Woo HH, et al. Among authors: lam st. Am J Med Genet A. 2004 Apr 1;126A(1):104-5. doi: 10.1002/ajmg.a.20554. Am J Med Genet A. 2004. PMID: 15039981 Review.

5

Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care.

Liu AP, Chow PC, Lee PP, Mok GT, Tang WF, Lau ET, Lam ST, Chan KY, Kan AS, Chau AK, Cheung YF, Lau YL, Chung BH. Liu AP, et al. Among authors: lam st. Eur J Med Genet. 2014 May-Jun;57(6):306-11. doi: 10.1016/j.ejmg.2014.03.014. Epub 2014 Apr 8. Eur J Med Genet. 2014. PMID: 24721633

6

Severe neonatal manifestations of Costello syndrome.

Lo IF, Brewer C, Shannon N, Shorto J, Tang B, Black G, Soo MT, Ng DK, Lam ST, Kerr B. Lo IF, et al. Among authors: lam st. J Med Genet. 2008 Mar;45(3):167-71. doi: 10.1136/jmg.2007.054411. Epub 2007 Nov 26. J Med Genet. 2008. PMID: 18039947

7

Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome.

Lam AC, Lai KK, Chau AT, Lo IF, Lam ST. Lam AC, et al. Among authors: lam st. Clin Genet. 2009 Jul;76(1):102-7. doi: 10.1111/j.1399-0004.2008.01121.x. Epub 2009 Jun 4. Clin Genet. 2009. PMID: 19500117 No abstract available.

8

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A. Unger S, et al. Among authors: lam st. Am J Med Genet A. 2010 Oct;152A(10):2543-9. doi: 10.1002/ajmg.a.33641. Am J Med Genet A. 2010. PMID: 20830804

9

Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.

Willemsen MH, de Leeuw N, Mercer C, Eisenhauer H, Morris J, Collinson MN, Barber JC, Lam ST, Lo IF, Rensen H, Ferwerda A, Hamel BC, Kleefstra T. Willemsen MH, et al. Among authors: lam st. Am J Med Genet A. 2011 Jan;155A(1):106-12. doi: 10.1002/ajmg.a.33715. Epub 2010 Dec 15. Am J Med Genet A. 2011. PMID: 21204216

10

A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.

Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY, Abrigo JM, Tsang SY, Tsui SK, Tong TM, Lo IF, Lam ST, Mok VC, Wong LK, Ngo JC, Lau KF, Chan TF, Chan HY. Tsoi H, et al. Among authors: lam st. J Med Genet. 2014 Sep;51(9):590-5. doi: 10.1136/jmedgenet-2014-102333. Epub 2014 Jul 25. J Med Genet. 2014. PMID: 25062847 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

130 results

Search Page