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المؤلفون: Hans van Bokhoven, John M. Opitz, Andrea Leitch, Stephen Brown, Jumana Y. Al-Aama, Michael B. Bober, Paul A.J. Brown, Salim Aftimos, Annick Toutain, Murray Feingold, Andrew P. Jackson, Jeroen Schoots, Ernie M.H.F. Bongers, John Dean, Alison Ross, Margaret E. Harley, I. Karen Temple, Michael Wright, Lies H. Hoefsloot, Alan Fryer, Alaa Y Edrees, James MacKenzie, Louise S. Bicknell, Carol Wise, Nine V A M Knoers, Pierre Sarda, Nikolaus Kau
المصدر: Nature genetics
Nature Genetics, 43(4), 356-359. Nature Publishing Group
Bicknell, L S, Bongers, E M H F, Leitch, A, Brown, S, Schoots, J, Harley, M E, Aftimos, S, Al-Aama, J Y, Bober, M, Brown, P A J, van Bokhoven, H, Dean, J, Edrees, A Y, Feingold, M, Fryer, A, Hoefsloot, L H, Kau, N, Knoers, N V A M, Mackenzie, J, Opitz, J M, Sarda, P, Ross, A, Temple, I K, Toutain, A, Wise, C A, Wright, M & Jackson, A P 2011, ' Mutations in the pre-replication complex cause Meier-Gorlin syndrome ', Nature Genetics, vol. 43, no. 4, pp. 356-359 . https://doi.org/10.1038/ng.775
Nature Genetics, 43, 356-9
Nature Genetics, 43, 4, pp. 356-9مصطلحات موضوعية: Male, Microcephaly, Micrognathism/genetics, Origin Recognition Complex, Basal Cell Nevus Syndrome, Sequence Homology, Cell Cycle Proteins, Pre-replication complex, medicine.disease_cause, Ear/abnormalities, Patella/abnormalities, Locus heterogeneity, Origin Recognition Complex/genetics, Micrognathism, Frameshift Mutation, Growth Disorders, Renal disorder [IGMD 9], Genetics, Mutation, Nuclear Proteins, Ear, Patella, Pedigree, Amino Acid, Phenotype, Female, Functional Neurogenomics [DCN 2], Molecular Sequence Data, Mutation, Missense, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], medicine, Humans, Amino Acid Sequence, DNA Primers, Congenital Microtia, Cell Cycle Proteins/genetics, DNA Primers/genetics, Sequence Homology, Amino Acid, Base Sequence, Growth Disorders/genetics, medicine.disease, Nuclear Proteins/genetics, Haplotypes, Genetics and epigenetic pathways of disease Renal disorder [NCMLS 6], Origin recognition complex, Missense, Primordial dwarfism
وصف الملف: application/pdf
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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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3دورية أكاديمية
المؤلفون: van Holsbeeck, M., Vandamme, B., Marchal, G., Martens, M., Victor, J., Baert, A. L.
المصدر: Skeletal Radiology: A Journal of Radiology, Pathology and Orthopedics. June 1987 16(4):304-311
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المؤلفون: Sonja A. de Munnik, Andrew P. Jackson, Jolt Roukema, Elisabeth H Hoefsloot, Jeroen Schoots, Nine V A M Knoers, Han G. Brunner, Ernie M.H.F. Bongers
المساهمون: Hematology
المصدر: Orphanet Journal of Rare Diseases, 10. BioMed Central Ltd.
Orphanet Journal of Rare Diseases
de Munnik, S A, Hoefsloot, E H, Roukema, J, Schoots, J, Knoers, N V A M, Brunner, H G, Jackson, A P & Bongers, E M H F 2015, ' Meier-Gorlin syndrome ', Orphanet journal of rare diseases, vol. 10, pp. 114 . https://doi.org/10.1186/s13023-015-0322-x
Orphanet Journal of Rare Diseases, 10, 114
Orphanet Journal of Rare Diseases, 10, pp. 114مصطلحات موضوعية: Male, Pediatrics, Review, Patella/abnormalities, Micrognathism, Laryngomalacia, Genetics(clinical), Pharmacology (medical), Growth Disorders/diagnosis, Genetics (clinical), Growth Disorders, Medicine(all), Proportionate short stature, Ear patella short stature syndrome, General Medicine, Anatomy, Patella, Hypoplasia, Growth hormone treatment, Microtia, Female, Abnormalities, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], medicine.medical_specialty, Congenital Microtia/diagnosis, Short stature, Urogenital Abnormalities/diagnosis, medicine, Humans, Patellar a-/hypoplasia, Abnormalities, Multiple, Congenital Microtia, Pre-replication complex, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Multiple/diagnosis, business.industry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Meier-Gorlin syndrome, medicine.disease, Micrognathism/diagnosis, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], Origin recognition complex, Urogenital Abnormalities, business, Primordial dwarfism
وصف الملف: application/pdf
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5كتاب إلكتروني
المؤلفون: Parker, Philip M., Parker, James N.
نوع المادة: eBook.
الموضوعات: Abnormalities, Human--Dictionaries, Abnormalities, Human--Computer network resources, Abnormalities, Human--Bibliography, Patella--Abnormalities--Dictionaries, Patella--Abnormalities--Computer network resources, Patella--Abnormalities--Bibliography, Nails (Anatomy)--Abnormalities--Dictionaries, Nails (Anatomy)--Abnormalities--Computer network resources, Nails (Anatomy)--Abnormalities--Bibliography
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6دورية أكاديمية
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7دورية أكاديمية
المؤلفون: LACROUX R, PHILIPPON J, POIRIER JP
المصدر: Annales de dermatologie et de syphiligraphie [Ann Dermatol Syphiligr (Paris)] 1960 Jul-Aug; Vol. 87, pp. 382-92.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Masson Et Cie Country of Publication: France NLM ID: 0370561 Publication Model: Print Cited Medium: Print ISSN: 0003-3979 (Print) Linking ISSN: 00033979 NLM ISO Abbreviation: Ann Dermatol Syphiligr (Paris) Subsets: OLDMEDLINE
مواضيع طبية MeSH: Bone Diseases* , Bone Diseases, Developmental* , Nail Diseases* , Nails*, Bone and Bones/*abnormalities , Patella/*abnormalities, Humans
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8دورية أكاديمية
المؤلفون: LEVAN NE
المصدر: Archives of dermatology [Arch Dermatol] 1961 Jun; Vol. 83, pp. 938-40.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: American Medical Assn Country of Publication: United States NLM ID: 0372433 Publication Model: Print Cited Medium: Print ISSN: 0003-987X (Print) Linking ISSN: 0003987X NLM ISO Abbreviation: Arch Dermatol Subsets: OLDMEDLINE
مواضيع طبية MeSH: Kidney Tubules, Proximal* , Musculoskeletal Abnormalities* , Nails* , Nails, Malformed* , Syndrome* , Urogenital Abnormalities*, Bone and Bones/*abnormalities , Kidney/*abnormalities , Patella/*abnormalities, Humans
SCR Disease Name: Absent patella; Allanson Pantzar McLeod syndrome
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9دورية أكاديمية
عنوان ترانسليتريتد: Absence congénitale des rotules associée à d'autres malformations osseuses et à une dystrophie des ongles.
المؤلفون: MONTAGARD
المصدر: Bulletin mensuel - Societe de medecine militaire francaise [Bull Mens Soc Med Mil Fr] 1945; Vol. 39 (8), pp. 222-3.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Charles Lavauzelle Cie Country of Publication: France NLM ID: 7507021 Publication Model: Print Cited Medium: Print ISSN: 0996-1852 (Print) Linking ISSN: 09961852 NLM ISO Abbreviation: Bull Mens Soc Med Mil Fr Subsets: OLDMEDLINE
مواضيع طبية MeSH: Bone Diseases* , Nail Diseases* , Nails*, Bone and Bones/*abnormalities , Patella/*abnormalities, Humans
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10دورية أكاديمية
المؤلفون: MCCLUSKEY KA
المصدر: Canadian journal of surgery. Journal canadien de chirurgie [Can J Surg] 1961 Jan; Vol. 4, pp. 192-204.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Canadian Medical Association Country of Publication: Canada NLM ID: 0372715 Publication Model: Print Cited Medium: Print ISSN: 0008-428X (Print) Linking ISSN: 0008428X NLM ISO Abbreviation: Can J Surg Subsets: OLDMEDLINE
مواضيع طبية MeSH: Nail-Patella Syndrome*, Patella/*abnormalities, Humans