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1دورية أكاديمية
المؤلفون: Gil-Rodriguez, MC, Deardorff, MA, Ansari, M, Tan, CA, Parenti, I, Baquero-Montoya, C, Ousager, LB, Puisac, B, Hernandez-Marcos, M, Teresa-Rodrigo, ME, Marcos-Alcalde, I, Wesselink, JJ, Lusa-Bernal, S, Bijlsma, EK, Braunholz, D, Bueno-Martinez, I, Clark, D, Cooper, NS, Curry, CJ, Fisher, R, Fryer, A, Ganesh, J, Gervasini, C, Gillessen-Kaesbach, G, Guo, YR, Hakonarson, H, Hopkin, RJ, Kaur, M, Keating, BJ, Kibaek, M, Kinning, E, Kleefstra, T, Kline, AD, Kuchinskaya, E, Larizza, L, Li, YR, Liu, XZ, Mariani, M, Picker, JD, Pie, A, Pozojevic, J, Queralt, E, Richer, J, Roeder, E, Sinha, A, Scott, RH, So, J, Wusik, KA, Wilson, L, Zhang, JG, Gomez-Puertas, P, Casale, CH, Strom, L, Selicorni, A, Ramos, FJ, Jackson, LG, Krantz, ID, Das, S, Hennekam, RCM, Kaiser, FJ, FitzPatrick, DR, Pie, J
المصدر: Human mutation. 36(4):454-462
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Bjorkhem, I, Diczfalusy, U, Lovgren-Sandblom, A, Starck, L, Jonsson, M, Tallman, K, Schirmer, H, Ousager, LB, Crick, PJ, Wang, YQ, Griffiths, WJ, Guengerich, FP
المصدر: Journal of lipid research. 55(6):1165-1172
مصطلحات موضوعية: Medicin och hälsovetenskap
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3
المؤلفون: Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio MN, Männik, K, van der Werf, I, Giannuzzi, G, Zazhytska, M, Gheldof, N, Migliavacca, E, Alfaiz, Aa, Roberts Caldeira, I, Hippolyte, L, Maillard, Am, Ferrarini, A, Butschi, Fn, Conrad, B, Addor, Mc, Belfiore, M, Roetzer, K, Dijck, Av, Blaumeiser, B, Kooy, F, Roelens, F, Dheedene, A, Chiaie, Bd, Menten, B, Oostra, A, Caberg, Jh, Carter, M, Kellam, B, Stavropoulos, Dj, Marshall, C, Scherer, Sw, Weksberg, R, Cytrynbaum, C, Bassett, A, Lowther, C, Gillis, J, Mackay, S, Bache, I, Ousager, Lb, Smerdel, Mp, Graakjaer, J, Kjaergaard, S, Metspalu, A, Mathieu, M, Bonneau, D, Guichet, A, Parent, P, Férec, C, Gerard, M, Plessis, G, Lespinasse, J, Masurel, A, Marle, N, Faivre, L, Callier, P, Layet, V, Meur, Nl, Le Goff, C, Duban Bedu, B, Sukno, S, Boute, O, Andrieux, J, Blanchet, P, Geneviève, D, Puechberty, J, Schneider, A, Leheup, B, Jonveaux, P, Mercier, S, David, A, Le Caignec, C, de Pontual, L, Pipiras, E, Jacquette, A, Keren, B, Gilbert Dussardier, B, Bilan, F, Goldenberg, A, Chambon, P, Toutain, A, Till, M, Sanlaville, D, Leube, B, Royer Pokora, B, Grabe, Hj, Schmidt, Co, Schurmann, C, Homuth, G, Thorleifsson, G, Thorsteinsdottir, U, Bernardini, L, Novelli, A, Micale, L, Merla, G, Zollino, M, Mari, Francesca, Rizzo, Cl, Renieri, Alessandra, Silengo, M, Vulto van Silfhout AT, Schouten, M, Pfundt, R, de Leeuw, N, Vansenne, F, Maas, Sm, Barge Schaapveld DQ, Knegt, Ac, Stadheim, B, Rodningen, O, Houge, G, Price, S, Hawkes, L, Campbell, C, Kini, U, Vogt, J, Walters, R, Blakemore, A, Gusella, Jf, Shen, Y, Scott, D, Bacino, Ca, Tsuchiya, K, Ladda, R, Sell, S, Asamoah, A, Hamati, Ai, Rosenfeld, Ja, Shaffer, Lg, Mitchell, E, Hodge, Jc, Beckmann, Js, Jacquemont, S, Reymond, A, Ewans, Lj, Mowat, D, Walker, J, Amor, Dj, Esch, Hv, Leroy, P, Bamforth, Js, Babu, D, Isidor, B, Didonato, N, Hackmann, K, Passeggeri, M, Haeringen, Av, Smith, R, Ellingwood, S, Farber, Dm, Puri, V, Zadeh, N, Weaver, Dd, Miller, M, Wilks, T, Jorgez, Cj, Lafayette, D
المساهمون: Blaumeiser, Bettina, 2p15 Consortium, 16p11.2 Consortium, Loviglio, M.N., Männik, K., van der Werf, I., Giannuzzi, G., Zazhytska, M., Gheldof, N., Migliavacca, E., Alfaiz, A.A., Roberts-Caldeira, I., Hippolyte, L., Maillard, A.M., Ferrarini, A., Butschi, F.N., Conrad, B., Addor, M.C., Belfiore, M., Roetzer, K., Dijck, A.V., Blaumeiser, B., Kooy, F., Roelens, F., Dheedene, A., Chiaie, B.D., Menten, B., Oostra, A., Caberg, J.H., Carter, M., Kellam, B., Stavropoulos, D.J., Marshall, C., Scherer, S.W., Weksberg, R., Cytrynbaum, C., Bassett, A., Lowther, C., Gillis, J., MacKay, S., Bache, I., Ousager, L.B., Smerdel, M.P., Graakjaer, J., Kjaergaard, S., Metspalu, A., Mathieu, M., Bonneau, D., Guichet, A., Parent, P., Férec, C., Gerard, M., Plessis, G., Lespinasse, J., Masurel, A., Marle, N., Faivre, L., Callier, P., Layet, V., Meur, N.L., Le Goff, C., Duban-Bedu, B., Sukno, S., Boute, O., Andrieux, J., Blanchet, P., Geneviève, D., Puechberty, J., Schneider, A., Leheup, B., Jonveaux, P., Mercier, S., David, A., Le Caignec, C., de Pontual, L., Pipiras, E., Jacquette, A., Keren, B., Gilbert-Dussardier, B., Bilan, F., Goldenberg, A., Chambon, P., Toutain, A., Till, M., Sanlaville, D., Leube, B., Royer-Pokora, B., Grabe, H.J., Schmidt, C.O., Schurmann, C., Homuth, G., Thorleifsson, G., Thorsteinsdottir, U., Bernardini, L., Novelli, A., Micale, L., Merla, G., Zollino, M., Mari, F., Rizzo, C.L., Renieri, A., Silengo, M., Vulto-van Silfhout, A.T., Schouten, M., Pfundt, R., de Leeuw, N., Vansenne, F., Maas, S.M., Barge-Schaapveld, D.Q., Knegt, A.C., Stadheim, B., Rodningen, O., Houge, G., Price, S., Hawkes, L., Campbell, C., Kini, U., Vogt, J., Walters, R., Blakemore, A., Gusella, J.F., Shen, Y., Scott, D., Bacino, C.A., Tsuchiya, K., Ladda, R., Sell, S., Asamoah, A., Hamati, A.I., Rosenfeld, J.A., Shaffer, L.G., Mitchell, E., Hodge, J.C., Beckmann, J.S., Jacquemont, S., Reymond, A., Ewans, L.J., Mowat, D., Walker, J., Amor, D.J., Esch, H.V., Leroy, P., Bamforth, J.S., Babu, D., Isidor, B., DiDonato, N., Hackmann, K., Passeggeri, M., Haeringen, A.V., Smith, R., Ellingwood, S., Farber, D.M., Puri, V., Zadeh, N., Weaver, D.D., Miller, M., Wilks, T., Jorgez, C.J., Lafayette, D., Other departments, Human Genetics
المصدر: Molecular Psychiatry
Molecular Psychiatry, 22, 6, pp. 836-849
Molecular Psychiatry, Vol. 22, No 6 (2017) pp. 836-849
Molecular psychiatry
Molecular Psychiatry, vol. 22, no. 6, pp. 836-849
Molecular psychiatry, 22(6), 836-849. Nature Publishing Group
Molecular Psychiatry, 22, 836-849
Ousager, L B & 2p15 Consortium 2017, ' Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ', Molecular Psychiatry, vol. 22, no. 6, pp. 836-849 . https://doi.org/10.1038/mp.2016.84مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Autism Spectrum Disorder, Obesity/genetics, Settore MED/03 - GENETICA MEDICA, Body Mass Index, Microcephaly/genetics, Gene duplication, Chromosome Duplication, ddc:576.5, Copy-number variation, Child, In Situ Hybridization, In Situ Hybridization, Fluorescence, Genetics, medicine.diagnostic_test, Chromosome Mapping, Middle Aged, Phenotype, Chromatin, Chemistry, Psychiatry and Mental Health, Child, Preschool, Female, Original Article, Chromosomes, Human, Pair 16/genetics, Megalencephaly/genetics, Chromosome Deletion, Autistic Disorder/genetics, Molecular Biology, Cellular and Molecular Neuroscience, Human, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, Adolescent, DNA Copy Number Variations, Locus (genetics), DNA Copy Number Variations/genetics, Biology, Aged, Autistic Disorder, Chromosomes, Human, Pair 16, Humans, Infant, Intellectual Disability, Megalencephaly, Obesity, Chromosomes, Fluorescence, Chromatin/metabolism, 03 medical and health sciences, medicine, Preschool, Gene, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Pair 16, medicine.disease, Intellectual Disability/genetics, Autism Spectrum Disorder/genetics, 030104 developmental biology, Human medicine, Chromosome Mapping/methods, Fluorescence in situ hybridization
وصف الملف: pdf; application/pdf
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4دورية أكاديمية
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5دورية أكاديمية
المؤلفون: Øzdemir CM; Department of Endocrinology, Aarhus University Hospital, Aarhus N, Denmark., Nielsen MM; Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus N, Denmark., Liimatta J; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Bern University Hospital, University of Bern, Switzerland.; Department of Biomedical Research, University of Bern, Switzerland.; Kuopio Pediatric Research Unit (KuPRu), University of Eastern Finland, Kuopio, Finland., Voegel CD; Department of Biomedical Research, University of Bern, Switzerland.; Department of Nephrology, Bern University Hospital, University of Bern, Switzerland., Elzenaty RN; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Bern University Hospital, University of Bern, Switzerland.; Department of Biomedical Research, University of Bern, Switzerland.; Graduate School of Cellular and Biomedical Sciences, University of Bern, Switzerland., Wasehuus VS; Department of Endocrinology, Aarhus University Hospital, Aarhus N, Denmark., Lind-Holst M; Department of Paediatrics, Odense University Hospital, Odense, Denmark.; Department of Molecular Medicine, Aarhus University Hospital, Aarhus N, Denmark., Ornstrup MJ; Department of Endocrinology, Aarhus University Hospital, Aarhus N, Denmark.; Department of Molecular Medicine, Aarhus University Hospital, Aarhus N, Denmark., Gram SB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Flück CE; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Bern University Hospital, University of Bern, Switzerland.; Department of Biomedical Research, University of Bern, Switzerland., Gravholt CH; Department of Endocrinology, Aarhus University Hospital, Aarhus N, Denmark.; Department of Molecular Medicine, Aarhus University Hospital, Aarhus N, Denmark.; Department of Clinical Medicine, Aarhus University Hospital, Aarhus N, Denmark.
المصدر: Endocrinology, diabetes & metabolism case reports [Endocrinol Diabetes Metab Case Rep] 2024 Aug 01; Vol. 2024 (3). Date of Electronic Publication: 2024 Aug 01 (Print Publication: 2024).
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Bioscientifica Country of Publication: England NLM ID: 101618943 Publication Model: Electronic-Print Cited Medium: Print ISSN: 2052-0573 (Print) Linking ISSN: 20520573 NLM ISO Abbreviation: Endocrinol Diabetes Metab Case Rep Subsets: PubMed not MEDLINE
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6دورية أكاديمية
المؤلفون: Gram SB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; European Reference Network for Rare Skin Diseases (ERN-Skin), Odense, Denmark., Jørgensen ASF; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Bygum A; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Hudklinikken Kolding, Kolding, Denmark., Brusgaard K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
المصدر: Clinical genetics [Clin Genet] 2024 May; Vol. 105 (5), pp. 561-566. Date of Electronic Publication: 2024 Feb 04.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
مواضيع طبية MeSH: Keratoderma, Palmoplantar*/genetics, Humans ; Skin ; Heterozygote ; Haplotypes ; Denmark ; Adaptor Proteins, Vesicular Transport
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7تقرير
المؤلفون: Gram SB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; European Reference Network for Rare Skin Diseases (ERN-Skin), Odense, Denmark., Brusgaard K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Bygum A; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Hudklinikken Kolding, Koldig, Denmark., Christensen AH; Department of Cardiology, Rigshospitalet and Herlev-Gentofte Hospitals, Hellerup, Denmark., Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
المصدر: The Journal of dermatology [J Dermatol] 2024 May; Vol. 51 (5), pp. e143-e144. Date of Electronic Publication: 2024 Mar 25.
نوع المنشور: Letter; Case Reports
بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 7600545 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1346-8138 (Electronic) Linking ISSN: 03852407 NLM ISO Abbreviation: J Dermatol Subsets: MEDLINE
مواضيع طبية MeSH: Keratoderma, Palmoplantar*/diagnosis , Keratoderma, Palmoplantar*/genetics , Keratoderma, Palmoplantar*/etiology , Keratoderma, Palmoplantar*/pathology, Humans ; Female ; Cardiomyopathies/diagnosis ; Cardiomyopathies/etiology ; Hair/pathology ; Male ; Hair Diseases/diagnosis ; Adult ; Middle Aged
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8دورية أكاديمية
المؤلفون: Jelsig AM; Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark. Electronic address: anne.marie.jelsig@regionh.dk., Wullum L; Omicron ApS, Copenhagen, Denmark., Kuhlmann TP; Department of Pathology, Copenhagen University Hospital, Herlev, Denmark., Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Burisch J; Danish Polyposis Registry, Gastrounit, Copenhagen University Hospital-Amager and Hvidovre, Hvidovre, Denmark., Karstensen JG; Danish Polyposis Registry, Gastrounit, Copenhagen University Hospital-Amager and Hvidovre, Hvidovre, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
المصدر: Gastroenterology [Gastroenterology] 2023 Dec; Vol. 165 (6), pp. 1565-1567.e2. Date of Electronic Publication: 2023 Sep 01.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0374630 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0012 (Electronic) Linking ISSN: 00165085 NLM ISO Abbreviation: Gastroenterology Subsets: MEDLINE
مواضيع طبية MeSH: Peutz-Jeghers Syndrome*/complications , Peutz-Jeghers Syndrome*/genetics , Neoplastic Syndromes, Hereditary*/genetics , Intestinal Polyposis*/diagnosis, Humans ; Cohort Studies
SCR Disease Name: Juvenile polyposis syndrome
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9Editorial & Opinion
المؤلفون: Miceikaitė I; University of Southern Denmark, Odense, Denmark ieva.miceikaite@gmail.com., Hao Q; Odense University Hospital, Odense, Denmark., Brasch-Andersen C; Odense University Hospital, Odense, Denmark., Fagerberg CR; Odense University Hospital, Odense, Denmark., Torring PM; Odense University Hospital, Odense, Denmark., Kristiansen BS; Odense University Hospital, Odense, Denmark., Ousager LB; University of Southern Denmark, Odense, Denmark., Sperling L; Odense University Hospital, Odense, Denmark., Ibsen MH; University Hospital of Southwestern Jutland, Esbjerg, Denmark., Löser K; Hospital of Southern Jutland, Aabenraa, Denmark., Larsen MJ; University of Southern Denmark, Odense, Denmark.
المصدر: The New England journal of medicine [N Engl J Med] 2023 Nov 23; Vol. 389 (21), pp. 2017-2019.
نوع المنشور: Letter
بيانات الدورية: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE
مواضيع طبية MeSH: Exome Sequencing*/methods , Prenatal Diagnosis*/methods , Fetal Diseases*/genetics , Genetic Testing*/methods, Female ; Humans ; Pregnancy ; Fetus/diagnostic imaging ; Ultrasonography, Prenatal
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10دورية أكاديمية
المؤلفون: Pagnamenta AT; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Camps C; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Giacopuzzi E; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Human Technopole, Viale Rita Levi Montalcini 1, 20157, Milan, Italy., Taylor JM; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK., Hashim M; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Calpena E; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Kaisaki PJ; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Hashimoto A; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Yu J; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Sanders E; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Schwessinger R; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Hughes JR; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Lunter G; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.; University Medical Center Groningen, Groningen University, PO Box 72, 9700 AB, Groningen, The Netherlands., Dreau H; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK., Ferla M; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Lange L; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Kesim Y; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Ragoussis V; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK., Vavoulis DV; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK., Allroggen H; Neurosciences Department, UHCW NHS Trust, Clifford Bridge Road, Coventry, CV2 2DX, UK., Ansorge O; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK., Babbs C; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK., Baños-Piñero B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK., Beeson D; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK., Ben-Ami T; Pediatric Hematology-Oncology Unit, Kaplan Medical Center, Rehovot, Israel., Bennett DL; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK., Bento C; Hematology Department, Hospitais da Universidade de Coimbra, Coimbra, Portugal., Blair E; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7LE, UK., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Bull KR; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.; Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK., Cario H; Department of Pediatrics and Adolescent Medicine, University Medical Center, Eythstrasse 24, 89075, Ulm, Germany., Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7LE, UK., Conti V; Neuroscience Department, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139, Florence, Italy., Davies EG; Department of Immunology, Great Ormond Street Hospital for Children NHS Trust and UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research, 2Nd Floor, 20C Guilford Street, London, WC1N 1DZ, UK., Dhalla F; Department of Paediatrics, Institute of Developmental and Regenerative Medicine, IMS-Tetsuya Nakamura Building, Old Road Campus, Roosevelt Drive, Oxford, OX3 7TY, UK., Dacal BD; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK., Dong Y; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK., Dunford JE; Oxford NIHR Musculoskeletal BRC and Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Nuffield Orthopaedic Centre, Old Road, Oxford, OX3 7HE, UK., Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139, Florence, Italy., Harris AL; Department of Oncology, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, UK., Hartley J; Liver Unit, Birmingham Women's & Children's Hospital and University of Birmingham, Steelhouse Lane, Birmingham, B4 6NH, UK., Hollander G; Department of Paediatrics, University of Oxford, Level 2, Children's Hospital, John Radcliffe Hospital, Oxford, OX3 9DU, UK., Javaid K; Oxford NIHR Musculoskeletal BRC and Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Nuffield Orthopaedic Centre, Old Road, Oxford, OX3 7HE, UK., Kane M; Department of Pharmaceutical Sciences, School of Pharmacy, University of Maryland, Pharmacy Hall North, Room 731, 20 N. 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المصدر: Genome medicine [Genome Med] 2023 Nov 09; Vol. 15 (1), pp. 94. Date of Electronic Publication: 2023 Nov 09.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
مواضيع طبية MeSH: Genetic Variation* , Rare Diseases*/diagnosis , Rare Diseases*/genetics, Humans ; Whole Genome Sequencing ; Genetic Testing ; Mutation ; Cell Cycle Proteins