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Title	Author(s)	Issue Date	Views
A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome Journal:American Journal of Medical Genetics Part A	Willis, BR Lee, M Rethanavelu, K Fung, JLF Wong, RMS Hui, P Yeung, KS Lo, IFM Chung, BHY	2020	36
A report of three families with FBN1- related acromelic dysplasias and review of literature for genotype-phenotype correlation in gelophysic dysplasia Journal:European Journal of Medical Genetics	Cheng, SW Luk, HM Chu, WY Tung, YL Kwan, EYW Lo, IFM Chung, BHY	2018	81
Coffin–Lowry syndrome in Chinese Journal:American Journal of Medical Genetics Part A	Fung, JLF Rethanavelu, K Luk, HM Ho, MSP Lo, IFM Chung, BHY	2019	32
Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018	Chan, HSS Kwong, KY Luk, HM Lo, IFM Fung, STH Tsang, HYM Chung, BHY Chan, AOK	2019	28
Contribution of gain-of-function mutations in R1T1 to the pathogenesis of Noonan syndrome: a report of 3 new Chinese patients in Hong Kong Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting	Leung, KC Ma, CH Gao, W Chu, WY Wong, WL Jin, D Lo, IFM Luk, HM Chung, BHY	2014	130
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	238
Evidence of spread of X Chromosome inactivation on Chromosome 15 in a girl with an Unbalanced t(X;15) Translocation Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Yeung, KS Chee, WYY Luk, HM Tang, MHY Lau, ETK Shuen, YA Lo, IFM Chan, YK Chung, BHY	2013	74
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
Mechanisms for the generation of two quadruplications associated with split-hand malformation Journal:Human Mutation	Gu, S Posey, JE Yuan, B Carvalho, CMB Luk, HM Erikson, K Lo, IFM Leung, GKC Pickering, CR Chung, BHY Lupski, JR	2016	72
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
Mowat-Wilson syndrome in a Chinese population: A case series Journal:American Journal of Medical Genetics Part A	Ho, S Luk, H-M Chung, BH-Y Fung, JL-F Mak, HH-Y Lo, IFM	2020	41
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	140
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
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	89
A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling Journal:European Journal of Medical Genetics	Luk, HM Wong, VCH Lo, IFM Chan, YK Lau, ETK Kan, SYA Tang, MHY Tang, WF She, WMK Chu, WY Sin, WK Chung, BHY	28-Jan-2014	93
Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy-A Territory Wide Collaborative Study in Hong Kong Journal:Child Neurology Open	Chan, SHS Lo, IFM Cherek, S Cheng, WW Fung, EL Yeung, WL Ngan, M Lee, WC Kwong, L Wong, SN Ma, CK Tai, SM Ng, SF Wu, SP Wong, VCN	2015	124
Rubinstein–Taybi syndrome in diverse populations Journal:American Journal of Medical Genetics Part A	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 Chung, BHY 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 Paneque, AL 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	2020	9
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	33
Silver-Russell syndrome in Hong Kong Journal:Hong Kong Medical Journal	Luk, HM YEUNG, KS Wong, WL Chung, BHY Tong, TMF Lo, IFM	2016	60

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