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Title	Author(s)	Issue Date	Views
22q11.2 deletion syndrome in adult Chinese Patients with Conotruncal Anomalies: dysmorphisms, clinical features and underdiagnosis Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Liu, APY Chow, PC Lee, PPW Mok, TKG Tang, WF Lau, ETK Lam, STS Chan, KY Kan, SYA Chau, AKT Cheung, YF Lau, YL Chung, BHY	2013	118
A case of perinatal lethal form of hypophosphatasia; and review of literatures Journal:Hong Kong Journal of Paediatrics	Lam, ACF Lam, CW Tang, MHY Chu, JWY Lam, STS	2006	135
Chinese patients with rasopathies: Detection of 29 known and novel variants using next-generation sequencing (NGS) Proceeding/Conference:36th Annual David W. Smith Workshop	Leung, KC Lo, I Luk, HM Tang, HMV Gao, W Wong, WL Chu, WY Lam, STS Ma, CH Jin, D Chan, YK Chung, BHY	2015	83
Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA) Journal:Clinical Biochemistry	Lai, KKS Lo, IFM Tong, TMF Cheng, LYL Lam, STS	2006	237
Diagnostic difficulties in Sanfilippo disease Journal:Hong Kong Journal of Paediatrics	Chan, DKH Lam, CW Lam, STS	2006	120
Fragile X positivity in Chinese children with autistic spectrum disorder Journal:Pediatric Neurology	Wong, VCN Lam, STS	1992	187
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	70
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	110
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	122
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	172
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	136
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	112
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	144
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	101
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	150
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	65
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	78
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	147
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	79

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