HKU Scholars Hub: Browsing DSpace

Browsing by Author Lam, STS

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 中

or enter first few letters:

Showing results 6 to 25 of 29 < previous next >

Title	Author(s)	Issue Date	Views
Fragile X positivity in Chinese children with autistic spectrum disorder Journal:Pediatric Neurology	Wong, VCN Lam, STS	1992	163
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics	Yu, KPT Luk, HM Leung, KC Mak, CCY Cheng, SSW Hau, EWL Chan, DKH Lam, STS Tong, TMF Chung, BHY Lo, FMI	2019	81
Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes Proceeding/Conference:Annual Congress of the Asian Society for Pediatric Research, ASPR 2006	Chung, BHY Lam, STS Tong, TMF Li, YH Lun, KS Chan, HC Or, SF Lau, YL	2006	105
Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes Proceeding/Conference:HUGO / HUGO-AP 2006	Lun, KS Lam, STS Tong, TMF Chung, BHY Li, YH Chan, HC Or, SF Lau, YL	2006	94
Identification of 25 novel and 2 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes Proceeding/Conference:HKPS-HKPNA 2006 Joint Annual Scientific Meeting	Chung, BHY Lam, STS Tong, TMF Li, YH Lun, KS Chan, HC Or, SF Lau, YL	2006	155
Identification of 7 novel TGFBR2 (Transforming Growth Factor-Beta Receptor 2) mutations in Chinese with Marfan syndrome (MFS) and related phenotypes using denaturing high performance liquid chromatography (DHPLC) Proceeding/Conference:International Congress of Pediatrics, IPA 2007	Chung, BHY Li, YH Lam, STS Yang, W Lun, KS Lau, YL	2007	102
Identification of 7 novel TGFBR2 mutations in Chinese with marfan syndrome (MFS) and related phenotypes using DHPLC Proceeding/Conference:Congress of Asian Society for Pediatric Research, ASPR 2007	Chung, BHY Li, YH Lam, STS Yang, W Lun, KS Lau, YL	2007	93
Identification of 7 novel transforming growth factor β receptor 2 mutations in Chinese patients with marfan syndrome Proceeding/Conference:Pediatrics	Chung, BHY Li, YH Lam, STS Yang, W Lun, KS Lau, YL	2008	147
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes Journal:American Journal of Medical Genetics, Part A	Chung, BHY Lam, STS Tong, TMF Li, SYH Lun, KS Chan, DHC Fok, SFS Or, JSF Smith, DK Yang, W Lau, YL	2009	62
Identifying genetic mutations in patients with Rasopathies using a Next Generation Sequencing Diagnostic Pipeline in Hong Kong Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Lo, IFM Leung, KC Luk, HM Tang, VHM Gao, W Wong, WL Tang, LYF Chu, WY Kan, SYA Tang, MHY Lam, STS Yang, W Ma, CH Jin, D Chan, YK Chung, BHY	2014	107
Massive parallel sequencing for the genetic diagnosis of rasopathies: a study of 58 Chinese patients in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2013	Lo, IFM Leung, KC Luk, MHM Wong, WL Tang, LYF Chu, YWY Kan, ASY Tang, MHY Lam, STS Yang, W Chan, YK Chung, BHY	2013	26
Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T>A and 79G>T in RMRP gene Journal:Prenatal Diagnosis	Lam, ACF Chan, DHC Tong, TMF Tang, MHY Lo, SYF Lo, IFM Lam, STS	2006	45
Niemann-Pick disease in the Chinese. A report of four cases in three Chinese families Journal:Pathology	Collins, RJ Liu, WT Lam, STS Lin, HJ	1989	132
Normal cord blood thyroid-stimulating hormone in a child with resistance to thyroid hormone Journal:Neuroembryology and Aging	Chan, AOK Lam, CW Lo, IFM Lam, STS Shek, CC Tiu, SC Tong, SF	2005	139
NSD1 mutations generate a genome-wide DNA methylation signature Journal:Nature Communications	Choufani, S Cytrynbaum, C Chung, BHY Turinsky, AL Grafodatskaya, D Chen, YA Cohen, ASA Dupuis, L Butcher, DT Siu, MT Luk, HM Lo, IFM Lam, STS Caluseriu, O Stavropoulos, DJ Reardon, W Mendoza-Londono, R Brudno, M Gibson, WT Chitayat, D	2015	72
NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014	Chonufani, S Cytrynbaum, C Chung, BHY Turinsky, AL Grafodatskaya, D Chen, YA Luk, HM Lo, IFM Lam, STS Stavropoulos, DJ Gibson, B Reardon, M Brudno, M Mendoza-Londono, R Chitayat, D Weksberg, R	2014	62
A second report of p.Pro986Leu variant in COL2A1 - phenotypic overlap with SEDC and other forms of type II collagenopathies Journal:American Journal of Medical Genetics (Part A)	Chung, BHY Luk, HM Lo, IFM Lam, STS Li, RHW	2013	23
Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification Journal:Fertility and Sterility	Chow, JFC Yeung, WSB Lau, EYL Lam, STS Tong, T Ng, EHY Ho, PC	2009	159
Spontaneous growth in Chinese patients with Turner's syndrome and influence of karyotype Journal:Acta Paediatrica, International Journal of Paediatrics	Low, LCK Sham, C Kwan, E Karlberg, J Tang, G Cheung, PT Pang, H Tse, W But, B Yu, CM Lam, STS	1997	168
Thanatophoric dysplasia variant, San Diego type in a Chinese fetus, caused by C746G missense mutation in FGFR3 gene Journal:Hong Kong Journal of Paediatrics	Lam, ACF Tong, TMF Tang, MHY Lo, S Lee, CP Lau, E Lam, STS	2006	82

Showing results 6 to 25 of 29 < previous next >