المؤلفون: Jacob, P, Lindelof, H, Rustad, CF, Sutton, VR, Moosa, S, Udupa, P, Hammarsjo, A, Bhavani, GS, Batkovskyte, D, Tveten, K, Dalal, A, Horemuzova, E, Nordgren, A, Tham, E, Shah, HT, Merckoll, E, Orellana, L, Nishimura, G, Girisha, KM, Grigelioniene, G

المصدر: NPJ genomic medicine. 8(1):39

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:154245329

المؤلفون: Baliakas, P, Tesi, B, Wartiovaara-Kautto, U, Stray-Pedersen, A, Friis, LS, Dybedal, I, Hovland, R, Jahnukainen, K, Raaschou-Jensen, K, Ljungman, P, Rustad, CF, Lautrup, CK, Kilpivaara, O, Kittang, AO, Gronbaek, K, Cammenga, J, Hellstrom-Lindberg, E, Andersen, MK

المصدر: HemaSphere. 3(6):e321

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:147853613

المؤلفون: Wang, Z, Iida, A, Miyake, N, Nishiguchi, KM, Fujita, K, Nakazawa, T, Alswaid, A, Albalwi, MA, Kim, OH, Cho, TJ, Lim, GY, Isidor, B, David, A, Rustad, CF, Merckoll, E, Westvik, J, Stattin, EL, Grigelioniene, G, Kou, I, Nakajima, M, Ohashi, H, Smithson, S, Matsumoto, N, Nishimura, G, Ikegawa, S

المصدر: PloS one. 11(3):e0150555

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:133271922

المؤلفون: Mohammad K. Eldomery, Olaug K. Rødningen, Cecilia Poli, Debra Canter, Berit Flatø, Ketil Heimdal, Nicholas L. Rider, Silje F. Jørgensen, Hasibe Artac, Hans Christian Erichsen, Francisco Javier Espinosa Rosales, Ivan K. Chinn, Alison A. Bertuch, Bo Yuan, Jordan S. Orange, Emily M. Mace, Wojciech Wiszniewski, Robert Lyle, Shalini N. Jhangiani, Tobias Gedde-Dahl, Carla M. Davis, Carl E. Allen, I. Celine Hanson, Magnus K. O. Burstedt, Thomas B. Issekutz, Mari Ann Kulseth, Yavuz Bayram, Eric A. Smith, Tram N. Cao, Stephen Jolles, Andrew C. Issekutz, Pubudu S. Samarakoon, Alice Y. Chan, Gozde Yesil, Eva Holmberg, Børre Fevang, Diana K. Bayer, John W. Belmont, Asbjørg Stray-Pedersen, Timothy J. Vece, Magdalena Walkiewicz, James R. Lupski, Ying Sheng, Trine Prescott, Liv T. N. Osnes, Cecilie F. Rustad, Nina Denisse Guerrero-Cursaru, Juan Carlos Aldave Becerra, Victor Wei Zhang, Philip M. Boone, Mohammad S. Ehlayel, Jason W. Caldwell, Tore G. Abrahamsen, José Luis Franco, Harshal Abhyankar, Henrik Hjorth-Hansen, Liliana Bezrodnik, Vegard Skogen, Nicola A.M. Wright, Lisa R. Forbes, Anne Grete Bechensteen, Christine R. Beck, Saul Oswaldo Lugo Reyes, Lee-Jun C. Wong, Shen Gu, Sarah K. Nicholas, Christina E. West, Filiz O. Seeborg, Mehmed M. Atik, Eric Boerwinkle, Luis A. Pedroza, Caterina Cancrini, Hanne Sørmo Sorte, Yaping Yang, Christine M. Eng, Richard A. Gibbs, Lenora M. Noroski, Alessandro Aiuti, Ender Karaca, Torstein Øverland, Claudia Milena Trujillo Vargas, Jordan K. Abbott, Geir E. Tjønnfjord, William T. Shearer, Javier Chinen, Ingunn Dybedal, Tomasz Gambin, Donna M. Muzny, Pål Aukrust, Ingvild Nordøy, María Soledad Caldirola, Jianhong Hu, Zeynep Coban Akdemir

المساهمون: YEŞİL, Gözde, Stray Pedersen, A, Sorte, H, Samarakoon, P, Gambin, T, Chinn, Ik, Coban Akdemir, Zh, Erichsen, Hc, Forbes, Lr, Gu, S, Yuan, B, Jhangiani, Sn, Muzny, Dm, Rødningen, Ok, Sheng, Y, Nicholas, Sk, Noroski, Lm, Seeborg, Fo, Davis, Cm, Canter, Dl, Mace, Em, Vece, Tj, Allen, Ce, Abhyankar, Ha, Boone, Pm, Beck, Cr, Wiszniewski, W, Fevang, B, Aukrust, P, Tjønnfjord, Ge, Gedde Dahl, T, Hjorth Hansen, H, Dybedal, I, Nordøy, I, Jørgensen, Sf, Abrahamsen, Tg, Øverland, T, Bechensteen, Ag, Skogen, V, Osnes, Lt, Kulseth, Ma, Prescott, Te, Rustad, Cf, Heimdal, Kr, Belmont, Jw, Rider, Nl, Chinen, J, Cao, Tn, Smith, Ea, Caldirola, M, Bezrodnik, L, Lugo Reyes, So, Espinosa Rosales, Fj, Guerrero Cursaru, Nd, Pedroza, La, Poli, Cm, Franco, Jl, Trujillo Vargas, Cm, Aldave Becerra, Jc, Wright, N, Issekutz, Tb, Issekutz, Ac, Abbott, J, Caldwell, Jw, Bayer, Dk, Chan, Ay, Aiuti, Alessandro, Cancrini, C, Holmberg, E, West, C, Burstedt, M, Karaca, E, Yesil, G, Artac, H, Bayram, Y, Atik, Mm, Eldomery, Mk, Ehlayel, M, Jolles, S, Flatø, B, Bertuch, Aa, Hanson, Ic, Zhang, Vw, Wong, Lj, Hu, J, Walkiewicz, M, Yang, Y, Eng, Cm, Boerwinkle, E, Gibbs, Ra, Shearer, Wt, Lyle, R, Orange, J, Lupski, J. R., Selçuk Üniversitesi

المصدر: The Journal of allergy and clinical immunology, vol 139, iss 1

مصطلحات موضوعية: 0301 basic medicine, Male, Allergy, Genomic approaches delineate heterogeneous Mendelian disorders-, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.139, ss.232-245, 2017 [Stray-Pedersen A., Sorte H. S. , Samarakoon P., Gambin T., Chinn I. K. , Akdemir Z. H. C. , Erichsen H. C. , Forbes L. R. , Gu S., Yuan B., et al., -Primary immunodeficiency diseases], 0302 clinical medicine, OMIM : Online Mendelian Inheritance in Man, Immunology and Allergy, 2.1 Biological and endogenous factors, Copy-number variation, Primary immunodeficiency disease, whole-exome sequencing, Aetiology, Child, Exome sequencing, Genetics, screening and diagnosis, food and beverages, High-Throughput Nucleotide Sequencing, Genomics, Middle Aged, Settore MED/38, Detection, 030220 oncology & carcinogenesis, Child, Preschool, Medical genetics, Female, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Immunology, Biology, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, medicine, Humans, Genetic Testing, Preschool, Aged, Severe combined immunodeficiency, Genetic heterogeneity, Common variable immunodeficiency, Prevention, fungi, Human Genome, Immunologic Deficiency Syndromes, Infant, medicine.disease, 4.1 Discovery and preclinical testing of markers and technologies, 030104 developmental biology, Good Health and Well Being, Primary immunodeficiency, copy number variants

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2abf0338cd9012533e4851a811cd28aa
https://escholarship.org/uc/item/8188960d

المؤلفون: Rustad CF; Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway., Backe PH; Department of Microbiology, Oslo University Hospital HF, Rikshospitalet, Oslo, Norway.; Department of Medical Biochemistry, Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Jin C; Proteomics Core Facility at Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Merckoll E; Unilabs Radiology Norway, Oslo, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Maciej-Hulme ML; Department of Life Sciences and Health, Oslo Metropolitan University, Oslo, Norway., Karlsson N; Department of Life Sciences and Health, Oslo Metropolitan University, Oslo, Norway.; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Prescott T; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Sand ES; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Woldseth B; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Elgstøen KBP; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jun; Vol. 12 (6), pp. e2472.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Dwarfism*/genetics , Dwarfism*/metabolism , Dwarfism*/pathology, Humans ; Male ; Carboxy-Lyases/genetics ; Carboxy-Lyases/metabolism ; Alleles ; Phenotype ; Mutation ; Adult ; Pedigree

المؤلفون: Rustad CF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Prescott TE; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Merckoll E; Department of Radiology, Oslo University Hospital, Oslo, Norway., Kristensen E; Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Salvador CL; Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Nordgarden H; TAKO-centre (National Resource Centre for Oral health in Rare Disorders), Lovisenberg Diaconal Hospital, Oslo, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Nov; Vol. 188 (11), pp. 3369-3373. Date of Electronic Publication: 2022 Aug 12.

نوع المنشور: Letter

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Mucopolysaccharidoses* , Mucopolysaccharidosis VI* , N-Acetylgalactosamine-4-Sulfatase*, Humans

المؤلفون: Hardcastle A; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, Utah, USA., Berry AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Campbell IM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Zhao X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Gerard AE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Sisoudiya SD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Hernandez-Garcia A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Loddo S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Di Tommaso S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Capolino R; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Digilio MC; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Graziani L; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy., Rustad CF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Neas K; Genetic Health Service NZ, Wellington, New Zealand., Ferrero GB; Department of Clinical and Biological Sciences, University of Torino, Orbassano, Italy., Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy.; Città della Salute e della Scienza University Hospital, Torino, Italy., Di Gregorio E; Città della Salute e della Scienza University Hospital, Torino, Italy., Wellesley D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, Hampshire, UK.; University Hospital Southampton, Southampton, Hampshire, UK., Beneteau C; Nantes Université, CHU de Nantes, UF 9321 de Fœtopathologie et Génétique, Nantes, France., Joubert M; Nantes Université, CHU de Nantes, UF 9321 de Fœtopathologie et Génétique, Nantes, France., Van Den Bogaert K; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium., Boogaerts A; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium., McMullan DJ; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, UK., Dean J; Clinical Genetics Service, Ashgrove House, NHS Grampian, Aberdeen, UK., Giuffrida MG; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Bernardini L; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Varghese V; All Wales Medical Genomics Service, Cardiff, UK., Shannon NL; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Harrison RE; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Lam WWK; South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, Scotland, UK., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Turnpenny PD; Clinical Genetics Department, Royal Devon and Exeter Hospital, Exeter, UK., Cole T; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK., Morton J; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK., Eason J; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Jones MC; University of California, San Diego and Rady Children's Hospital, San Diego, California, USA., Hall R; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Wright M; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Horridge K; South Tyneside and Sunderland NHS Foundation Trust, Sunderland, UK., Shaw CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Chung WK; Department of Pediatrics, Columbia University, New York, USA.; Department of Medicine, Columbia University, New York, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 2958-2968. Date of Electronic Publication: 2022 Jul 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Hernias, Diaphragmatic, Congenital*/genetics, Animals ; DNA Copy Number Variations ; Diaphragm ; Mice

عنوان ترانسليتريتد: Rettelse: En kvinne i 50-årene med langvarig muskelsvakhet.

المؤلفون: Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K

المصدر: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke [Tidsskr Nor Laegeforen] 2022 Jan 18; Vol. 142 (2). Date of Electronic Publication: 2022 Jan 18 (Print Publication: 2022).

نوع المنشور: Journal Article; Published Erratum

بيانات الدورية: Publisher: Norske Laegeforening Country of Publication: Norway NLM ID: 0413423 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 0807-7096 (Electronic) Linking ISSN: 00292001 NLM ISO Abbreviation: Tidsskr Nor Laegeforen Subsets: PubMed not MEDLINE; MEDLINE

عنوان ترانسليتريتد: En kvinne i 50-årene med langvarig muskelsvakhet.

المؤلفون: Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K

المصدر: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke [Tidsskr Nor Laegeforen] 2022 Jan 07; Vol. 142 (1). Date of Electronic Publication: 2022 Jan 07 (Print Publication: 2022).

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Norske Laegeforening Country of Publication: Norway NLM ID: 0413423 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 0807-7096 (Electronic) Linking ISSN: 00292001 NLM ISO Abbreviation: Tidsskr Nor Laegeforen Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis*/diagnosis , Arthrogryposis*/genetics , Contracture* , Muscular Dystrophies*, Adolescent ; Adult ; Female ; Genetic Testing ; Humans ; Muscle Weakness/diagnosis ; Muscle Weakness/genetics

المؤلفون: Berland S; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway., Rustad CF; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway., Bentsen MHL; Department of Pediatric and Adolescent Medicine, Haukeland University Hospital, 5021 Bergen, Norway., Wollen EJ; Department of Pediatric Hepatology, Division of Pediatric and Adolescent Medicine, University of Oslo, Oslo University Hospital HF, 0424 Oslo, Norway., Turowski G; Department of Pathology, Center for Perinatal and Pregnancy-Related Pathology, Oslo University Hospital-Ullevål, 0424 Oslo, Norway., Johansson S; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.; Department of Clinical Science, University of Bergen, 5007 Bergen, Norway., Houge G; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway., Haukanes BI; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway.

المصدر: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2021 Dec 09; Vol. 7 (6). Date of Electronic Publication: 2021 Dec 09 (Print Publication: 2021).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

مواضيع طبية MeSH: Beckwith-Wiedemann Syndrome*/genetics, DNA Methylation ; Genomic Imprinting ; Humans ; Male ; Phenotype ; Uniparental Disomy