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1دورية أكاديمية
المؤلفون: Ng, Samuel YL., Luk, Ho-Ming, Hau, Edgar WL., Cheng, Shirley SW., Yu, Kris PT., Ho, Stephanie, Mok, Myth TS., Lo, Ivan FM.
المصدر: In European Journal of Medical Genetics October 2022 65(10)
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2دورية أكاديمية
المؤلفون: Ho, Stephanie KL., Luk, Ho-ming, Ng, Samuel YL., Yu, Kris PT., Cheng, Shirley SW., Ng, Phoebe PY., Mok, Myth TS., Hau, Edgar WL., Lo, Ivan FM.
المصدر: In European Journal of Medical Genetics April 2022 65(4)
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3دورية أكاديمية
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4دورية أكاديمية
المؤلفون: Ng Bobby KW, Liu KL, Chan KH, Hui Joannie, Ho Assunta CH, Lo Ivan FM, Lam STS
المصدر: Pediatric Rheumatology Online Journal, Vol 9, Iss Suppl 1, p P30 (2011)
مصطلحات موضوعية: Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1546-0096
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5
المؤلفون: DDD study, Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill
المساهمون: Regional Genetic Service, St Mary's Hospital, Manchester, Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Haukeland University Hospital, Royal Brsibane and Womens' Hospital, The University of Queensland, Department of Clinical Genetics, Children’s Hospital at Westmead, Service de génétique médicale, AP-HP Hôpital Necker - Enfants Malades [Paris], Institute of Human Genetics, Universität Ulm, Institut für Humangenetik [Essen], Universitätsklinikum Essen, Karolinska University Hospital, Karolinska University Hospital [Stockholm], University Hospitals Bristol, University of Birmingham [Birmingham], Hacettepe University Children's Hospital, Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Division of Genetics, Birth Defects and Metabolism, Children's hospital of Chicago, Clinical Genetics, Guy's Hospital [London], North West london hospitals NHS Trust, Department of Clinical Genetics, Northampton General Hospital, Northampton, Barzilai Medical Center, Cliniques Universitaires St Luc, Université Catholique de Louvain (UCL), Service de génétique [Tours], Hôpital Bretonneau - CHRU Tours, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1) - Centre National de la Recherche Scientifique (CNRS) - Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de génétique clinique [Rennes], Université de Rennes 1 (UR1) - CHU Pontchaillou [Rennes] - Hôpital Sud, Pediatrics, Istanbul University Cerrahpasa, Birmingham Women’s Hospital, University of Groningen [Groningen], Belfast City Hospital, Centre For Medical Genetics, Clinical Genetic Service, Department of Health, Institute of Medical Genetics, Heath Park, Cardiff, National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin OLCHC, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione 'Istituto Neurologico Nazionale C. Mondino', Dipartimento di Medicina Molecolare, University of Pavia, UZ Leuven - campus Gasthuisberg, East Anglian Medical Genetics Service, Cytogenetics Laboratory, Addenbrooke's Hospital, Sheffield Children’s Hospital, Service de Génétique, CHU Reims - Hôpital Maison Blanche - IFR 53, Leiden University Medical Center, Service de Génétique humaine, Université de Lausanne (UNIL), Çocuk Sağlığı ve Hastalıkları, University of Bergen (UiB), Westmead Hospital [Sydney], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Universität Ulm - Ulm University [Ulm, Allemagne], Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, Cliniques Universitaires Saint-Luc [Bruxelles], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-hôpital Sud, Sheffield Children's NHS Foundation Trust, Centre Hospitalier Universitaire de Reims (CHU Reims)-Hôpital Maison Blanche-IFR 53, Université de Reims Champagne-Ardenne (URCA)-Université de Reims Champagne-Ardenne (URCA), Leiden University Medical Center (LUMC), UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, Nottingham University Hospitals NHS Trust (NUH), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Università degli Studi di Pavia = University of Pavia (UNIPV), Universiteit Leiden-Universiteit Leiden, Université de Lausanne = University of Lausanne (UNIL), DDD study, Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)
المصدر: European Journal of Human Genetics, 23(9), 1165-1170
European journal of human genetics: EJHG
European journal of human genetics: EJHG, 2015, 23 (9), pp.1165--1170. 〈10.1038/ejhg.2014.248〉
European Journal of Human Genetics, 23(9), 1165-1170. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (9), pp.1165--1170. ⟨10.1038/ejhg.2014.248⟩
European Journal of Human Genetics, Vol. 23, no. 9, p. 1165-1170 (2015)
European Journal of Human Genetics, 2015, 23 (9), pp.1165--1170. ⟨10.1038/ejhg.2014.248⟩
European Journal of Human Genetics : Ejhg, vol. 23, no. 9, pp. 1165-1170مصطلحات موضوعية: Male, DNA Mutational Analysis, Medizin, Gene Expression, Kidney, Severity of Illness Index, Craniofacial Abnormalities, Missense mutation, Exome, Genetics (clinical), Histone Acetyltransferases, Genetics, OHDO SYNDROME, Patella, Exons, Hypotonia, 3. Good health, Blepharophimosis/diagnosis, Blepharophimosis/genetics, Child, Preschool, Congenital Hypothyroidism/diagnosis, Congenital Hypothyroidism/genetics, Craniofacial Abnormalities/diagnosis, Craniofacial Abnormalities/genetics, Diagnosis, Differential, Facies, Female, Genetic Association Studies, Genotype, Heart Defects, Congenital/diagnosis, Heart Defects, Congenital/genetics, Histone Acetyltransferases/genetics, Humans, Intellectual Disability/diagnosis, Intellectual Disability/genetics, Joint Instability/diagnosis, Joint Instability/genetics, Kidney/abnormalities, Kidney/pathology, Mutation, Patella/abnormalities, Patella/pathology, Phenotype, Psychomotor Disorders/diagnosis, Psychomotor Disorders/genetics, Scrotum/abnormalities, Scrotum/pathology, Urogenital Abnormalities/diagnosis, Urogenital Abnormalities/genetics, Scrotum, Medical genetics, genitopatellar, Say-Barber-Biesecker, medicine.symptom, Psychomotor disorder, Haploinsufficiency, Heart Defects, Congenital, Joint Instability, medicine.medical_specialty, Biology, Blepharophimosis, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, KAT6B, Article, Intellectual Disability, medicine, Congenital Hypothyroidism, CAUSE GENITOPATELLAR SYNDROME, medicine.disease, blepharophimosis, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DE-NOVO MUTATIONS, Urogenital Abnormalities, Genitopatellar syndrome, HISTONE ACETYLTRANSFERASE KAT6B, Psychomotor Disorders, MENTAL-RETARDATION
وصف الملف: text/plain; application/pdf
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6دورية أكاديمية
المؤلفون: Yeung, KS, Chee, YY, Luk, HM, Kan, Anita SY, Tang, Mary HY, Lau, Elizabeth T, Shuen, Andrew Y, Lo, Ivan FM, Chan, Kelvin YK, Chung, Brian HY
المصدر: American Journal of Medical Genetics. Part A; Oct2014, Vol. 164A Issue 10, p2521-2528, 8p
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7دورية
المؤلفون: Chan, CM Jimmy, Chau, YM Jackie, Woo, SB, Luk, HM, Lo, Ivan FM
المصدر: Journal of Orthopaedic Surgery; June 2018, Vol. 26 Issue: 2
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8مراجعة
المؤلفون: Ho SKL; Clinical Genetic Service Department of Health Hong Kong Special Administrative Region, China, Tsang MHY; Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine University of Hong Kong Hong Kong Special Administrative Region, China, Lee M; Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine University of Hong Kong Hong Kong Special Administrative Region, China, Cheng SSW; Clinical Genetic Service Department of Health Hong Kong Special Administrative Region, China, Luk HM; Clinical Genetics Service Unit Hong Kong Children's Hospital Hong Kong Special Administrative Region, China, Lo IFM; Clinical Genetic Service Department of Health Hong Kong Special Administrative Region, China, Chung BHY; Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine University of Hong Kong; Hong Kong Genome Institute Hong Kong Special Administrative Region, China
المصدر: 1993.
المصدر: In: GeneReviews ® Adam MP; Everman DB; Mirzaa GM; Pagon RA; Wallace SE; Bean LJH; Gripp KW; Amemiya A
نوع المنشور: Review
بيانات الدورية: Publisher: University of Washington, Seattle Cited Medium: Internet
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9مراجعة
المؤلفون: Ho SKL; Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, China, Leung LT; Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, China, Luk HM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong Special Administrative Region, China, Lo IFM; Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, China
المصدر: 1993.
المصدر: In: GeneReviews ® Adam MP; Everman DB; Mirzaa GM; Pagon RA; Wallace SE; Bean LJH; Gripp KW; Amemiya A
نوع المنشور: Review
بيانات الدورية: Publisher: University of Washington, Seattle Cited Medium: Internet