المؤلفون: Schmock, H., Stevenson, Matt P., Hanebaum, S., Vangkilde, A., Rosengren, A., Weinsheimer, S. M., Skovby, F., Olesen, C., Ullum, H., Baaré, W. F.C., Siebner, H. R., Didriksen, M., Werge, T., Olsen, L., Jepsen, J. R.M.

المصدر: Schmock , H , Stevenson , M P , Hanebaum , S , Vangkilde , A , Rosengren , A , Weinsheimer , S M , Skovby , F , Olesen , C , Ullum , H , Baaré , W F C , Siebner , H R , Didriksen , M , Werge , T , Olsen , L & Jepsen , J R M 2024 , ' Clinical segmentation in 22q11.2 deletion syndrome : Cognitive impairments and additional genetic load ' , Journal of Psychiatric Research , vol. 177 , pp. 153-161 . https://doi.org/10.1016/j.jpsychires.2024.06.045

الاتاحة: https://researchprofiles.ku.dk/da/publications/clinical-segmentation-in-22q112-deletion-syndrome(e949590b-ec56-4bc1-84d6-14d24cebf2f1).html
https://doi.org/10.1016/j.jpsychires.2024.06.045

المؤلفون: Santer, R, Groth, S, Kinner, M, Dombrowski, A, Berry, GT, Brodehl, J, Leonard, JV, Moses, S, Norgren, S, Skovby, F, Schneppenheim, R, Steinmann, B, Schaub, J

المصدر: Human genetics. 110(1):21-29

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1949693

المؤلفون: Roed, C, Skovby, F, Lund, A M

المصدر: Ugeskrift for Laeger. 171(43):3099

المؤلفون: Lund, AM, Aström, E, Söderhäll, S, Schwartz, M, Skovby, F

المصدر: Human mutation. 13(6):503

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:210408781

المؤلفون: Callum, P., Messiaen, L.M., Bower, P.V., Skovby, F., Iger, J., Timshel, S., Sims, C.A., Falk, R.E.

مصطلحات موضوعية: Reproductive genetics

وصف الملف: text/html

Relation: http://humrep.oxfordjournals.org/cgi/content/short/27/4/1223; http://dx.doi.org/10.1093/humrep/des014

الاتاحة: http://humrep.oxfordjournals.org/cgi/content/short/27/4/1223
https://doi.org/10.1093/humrep/des014

المؤلفون: Skovby, F

المصدر: Månedsskrift for Praktisk Laegegerning. 85(4):469

المؤلفون: Vega, H., Trainer, A.H., Gordillo, M., Crosier, M., Kayserili, H., Skovby, F., Uzielli, M.L.G., Schnur, R.E., Manouvrier, S., Blair, E., Hurst, J.A., Forzano, F., Meins, M., Simola, K.O.J., Raas-Rothschild, A, Hennekam, R.C.M., Jabs, E.W.

المصدر: Vega , H , Trainer , A H , Gordillo , M , Crosier , M , Kayserili , H , Skovby , F , Uzielli , M L G , Schnur , R E , Manouvrier , S , Blair , E , Hurst , J A , Forzano , F , Meins , M , Simola , K O J , Raas-Rothschild , A , Hennekam , R C M & Jabs , E W 2010 , ' Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates ....

وصف الملف: application/pdf

Relation: https://dare.uva.nl/personal/pure/en/publications/phenotypic-variability-in-49-cases-of-esco2-mutations-including-novel-missense-and-codon-deletion-in-the-acetyltransferase-domain-correlates-with-esco2-expression-and-establishes-the-clinical-criteria-for-roberts-syndrome(0bf8f1b8-4bc6-43f9-981e-1f42ce1141e4).html

الاتاحة: https://dare.uva.nl/personal/pure/en/publications/phenotypic-variability-in-49-cases-of-esco2-mutations-including-novel-missense-and-codon-deletion-in-the-acetyltransferase-domain-correlates-with-esco2-expression-and-establishes-the-clinical-criteria-for-roberts-syndrome(0bf8f1b8-4bc6-43f9-981e-1f42ce1141e4).html
https://doi.org/10.1136/jmg.2009.068395
https://pure.uva.nl/ws/files/1276760/100985_341965.pdf

المؤلفون: Van Esso, D., Del Torso, S., Hadjipanayis, A., Biver, A., Jaeger-Roman, E., Wettergren, B., Nicholson, A., Zach, M., Hamilton, P., Tenore, A., Ramet, J., Craft, A., Pulido, M., Azevedo, I., Barak, S., Barillari, A., Bovet, F., Chybicka, A., De Beaufort, Carine, Eigenmann, A. K., Einberg, Ü., Ghenev, E., Hardarson, H., Kadar, F., Kubatova, G., Lanka, I., Lounamaa, R., Mimouni, F., Prcuchova, K., Prieler, A., Rubel, F., Rudzeviciene, O., Sedlak, W., Zupancic, M. S., Siebke, E., Simovicova, K., Skovby, F., Solomou, M., Stefanidis, D., Szitanyi, N., Verloove Vanhorick, P.

المصدر: Archives of Disease in Childhood, 95 (10), 791-795 (2010)

مصطلحات موضوعية: Europe, Adolescent, Child, Child Health Services, Preschool, Delivery of Health Care, Education, Medical, Graduate, Health Care Surveys, Health Services Research, Humans, Infant, Newborn, Pediatrics, Primary Health Care, Human health sciences, Sciences de la santé humaine

Relation: urn:issn:0003-9888; https://orbilu.uni.lu/handle/10993/27180; info:hdl:10993/27180; https://orbilu.uni.lu/bitstream/10993/27180/1/van%20esso%20et%20al.%202010%20paediatric%20primary%20care%20in%20europe.pdf; info:pmid: PMID: PMID: 20403821; wos:000282217500007

الاتاحة: https://orbilu.uni.lu/handle/10993/27180
https://orbilu.uni.lu/bitstream/10993/27180/1/van%20esso%20et%20al.%202010%20paediatric%20primary%20care%20in%20europe.pdf
https://doi.org/10.1136/adc.2009.178459

المؤلفون: Lund, A M, Skovby, F

المصدر: Ugeskrift for Laeger. 168(15-16):1547

المؤلفون: Camargo, S M R, Singer, D, Makrides, V, Huggel, K, Pos, K M, Wagner, C A, Kuba, K, Danilczyk, U, Skovby, F, Kleta, R, Penninger, J M, Verrey, F

المصدر: Camargo, S M R; Singer, D; Makrides, V; Huggel, K; Pos, K M; Wagner, C A; Kuba, K; Danilczyk, U; Skovby, F; Kleta, R; Penninger, J M; Verrey, F (2009). Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. Gastroenterology, 136(3):872-882.e3.

مصطلحات موضوعية: Zurich Center for Integrative Human Physiology (ZIHP), Institute of Physiology, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/17819/36/Camargo_Singer_Verrey_Gastroenterology_09V.pdf; https://www.zora.uzh.ch/id/eprint/17819/41/24.10.08_revised_PDF_manuscript_with_figures_GASTRO-D-08-00848V.pdf; info:pmid/19185582; urn:issn:0016-5085

الاتاحة: https://www.zora.uzh.ch/id/eprint/17819/
https://www.zora.uzh.ch/id/eprint/17819/36/Camargo_Singer_Verrey_Gastroenterology_09V.pdf
https://doi.org/10.1053/j.gastro.2008.10.055

المؤلفون: NIEBUHR, E., SKOVBY, F.

المصدر: Hereditas ; volume 86, issue 1, page 121-128 ; ISSN 0018-0661

الاتاحة: http://dx.doi.org/10.1111/j.1601-5223.1977.tb01220.x

المؤلفون: Skovby, F

المصدر: Ugeskrift for Laeger. 163(41):5639

المؤلفون: Jabs, E. W., Zou, H., Gordillo, M., Vega, H., Hou, F., Joenje, H., Waisfisz, Q., Chang, S., Paznekas, W. A., Manouvrier, S., Schnur, R., Uzielli, M., Hennekam, R., Skovby, F., Kayserili, H., Luque, R., Trainer, A.

المساهمون: 133994

مصطلحات موضوعية: Temel Bilimler, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri, Tıbbi Genetik, Dahili Tıp Bilimleri, Sağlık Bilimleri, Tıp, Yaşam Bilimleri (LIFE), GENETİK VE HAYAT

Relation: Vega H., Jabs E. W. , Gordillo M., Trainer A., Luque R., Kayserili H., Skovby F., Hennekam R., Uzielli M., Schnur R., et al., "Roberts syndrome-SC phocomeliia: Clinical and molecular findings", 2nd National Scientific Symposium held in Conjunction with the Cornelia-de-Lange-Syndrome-Foundation 25th National Meeting, Connecticut, Amerika Birleşik Devletleri, 22 Haziran 2006, ss.1298-1299; av_ae3ed499-e09c-45f6-a87d-d27fdbfee513; vv_1032021; http://hdl.handle.net/20.500.12627/116257

الاتاحة: https://hdl.handle.net/20.500.12627/116257

المؤلفون: Bieber Nielsen, J, Skovby, F

المصدر: Ugeskrift for Laeger. 162(5):672

المؤلفون: Lund, A., Wibrand, F., Skogstrand, K., Cohen, A., Christensen, M., Jäpelt, R. B., Dunø, M., Skovby, F., Nørgaard-Pedersen, B., Gregersen, N., Brage Storstein Andresen, Olsen, R. K. J., Hougaard, D.

المصدر: Lund, A, Wibrand, F, Skogstrand, K, Cohen, A S, Christensen, M, Jäpelt, R B, Dunø, M, Skovby, F, Nørgaard-Pedersen, B, Gregersen, N, Andresen, B S, Olsen, R K J & Hougaard, D M 2020, ' Danish expanded newborn screening is a successful preventive public health programme ', Danish Medical Journal, vol. 67, no. 1, A06190341 . < https://ugeskriftet.dk/files/scientific_article_files/2019-12/a06190341_0.pdf >
Lund, A, Wibrand, F, Skogstrand, K, Cohen, A, Christensen, M, Jäpelt, R B, Dunø, M, Skovby, F, Nørgaard-Pedersen, B, Gregersen, N, Andresen, B S, Olsen, R K J & Hougaard, D 2020, ' Danish expanded newborn screening is a successful preventive public health programme ', Danish Medical Journal, vol. 67, no. 1, A06190341 . < https://ugeskriftet.dk/dmj/danish-expanded-newborn-screening-successful-preventive-public-health-programme >
Scopus-Elsevier

مصطلحات موضوعية: Male, Early Diagnosis, Neonatal Screening, Preventive Health Services/methods, Infant, Newborn, Humans, Female, Pilot Projects, Metabolic Diseases/diagnosis, Denmark/epidemiology, Program Evaluation

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::276ea02bedf211d799c62200ef9a69e9
https://findresearcher.sdu.dk:8443/ws/files/159962736/a06190341_0.pdf

المؤلفون: Kjaergaard, S, Müller, J, Skovby, F

مصطلحات موضوعية: Acute paediatrics

وصف الملف: text/html

Relation: http://adc.bmj.com/cgi/content/short/87/4/324; http://dx.doi.org/10.1136/adc.87.4.324

الاتاحة: http://adc.bmj.com/cgi/content/short/87/4/324
https://doi.org/10.1136/adc.87.4.324

المؤلفون: Pedersen-Bjergaard, J, Christiansen, DH, Andersen, MK, Skovby, F

المصدر: Leukemia ; volume 16, issue 11, page 2177-2184 ; ISSN 0887-6924 1476-5551

الاتاحة: http://dx.doi.org/10.1038/sj.leu.2402764
https://www.nature.com/articles/2402764.pdf
https://www.nature.com/articles/2402764

المؤلفون: Simonsen, H, Nörgaard-Pedersen, B, Skovby, F

المصدر: Ugeskrift for Laeger. 161(9):1281

المؤلفون: Kjaergaard, S, Schwartz, M, Skovby, F

مصطلحات موضوعية: General and acute paediatrics

وصف الملف: text/html

Relation: http://adc.bmj.com/cgi/content/short/85/3/236; http://dx.doi.org/10.1136/adc.85.3.236

الاتاحة: http://adc.bmj.com/cgi/content/short/85/3/236
https://doi.org/10.1136/adc.85.3.236

المؤلفون: Skovby, F

المصدر: Ugeskrift for Laeger. 160(51):7447