المؤلفون: Mattison, Kari, Tossing, Gilles, Mulroe, Fred, Simmons, Callum, Butler, Kameryn, Schreiber, Alison, Alsadah, Adnan, Neilson, Derek, Naess, Karin, Wedell, Anna, Wredenberg, Anna, Sorlin, Arthur, McCann, Emma, Burghel, George, Menendez, Beatriz, Hoganson, George, Botto, Lorenzo, Filloux, Francis, Aledo-Serrano, Ángel, Gil-Nagel, Antonio, Tatton-Brown, Katrina, Verbeek, Nienke, van der Zwaag, Bert, Aleck, Kyrieckos, Fazenbaker, Andrew, Balciuniene, Jorune, Dubbs, Holly, Marsh, Eric, Garber, Kathryn, Ek, Jakob, Duno, Morten, Hoei-Hansen, Christina, Deardorff, Matthew, Raca, Gordana, Quindipan, Catherine, van Hirtum-Das, Michele, Breckpot, Jeroen, Hammer, Trine, Møller, Rikke, Whitney, Andrea, Douglas, Andrew, Kharbanda, Mira, Brunetti-Pierri, Nicola, Morleo, Manuela, Nigro, Vincenzo, May, Halie, Tao, James, Sherr, Elliot, Dobyns, William, Baines, Richard, Warwicker, Jim, Parker, J, Banka, Siddharth, Campeau, Philippe, Escayg, Andrew, Argilli, Emanuela

المصدر: Brain: a journal of neurology. 146(4)

مصطلحات موضوعية: ATP6V0C, V-ATPase, VMA3, epilepsy genetics, neurodevelopmental disorders, Humans, Vacuolar Proton-Translocating ATPases, Saccharomyces cerevisiae, Epilepsy, Adenosine Triphosphate

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8hz365sfTest

المؤلفون: Naume, Marie Mostue, Zhao, Qiaolin, Haslund-Krog, Sissel Sundell, Krag, Thomas, Winter, Brenda C.M.de, Revsbech, Karoline Lolk, Vissing, John, Holst, Helle, Møller, Morten Hylander, Hornsyld, Tessa Munkeboe, Dunø, Morten, Hoei-Hansen, Christina Engel, Born, Alfred Peter, Bo Jensen, Per, Cathrine Ørngreen, Mette

المصدر: Naume , M M , Zhao , Q , Haslund-Krog , S S , Krag , T , Winter , B C M D , Revsbech , K L , Vissing , J , Holst , H , Møller , M H , Hornsyld , T M , Dunø , M , Hoei-Hansen , C E , Born , A P , Bo Jensen , P & Cathrine Ørngreen , M 2024 , ' Acetaminophen treatment in children and adults with spinal muscular atrophy : a lower tolerance and higher risk of hepatotoxicity ' , Neuromuscular Disorders , vol. ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/be2ff226-edeb-4f64-a639-8a9834ddcbc0Test

الإتاحة: https://doi.org/10.1016/j.nmd.2023.11.005Test
https://pure.eur.nl/en/publications/be2ff226-edeb-4f64-a639-8a9834ddcbc0Test
https://pure.eur.nl/ws/files/121748705/Acetaminophen_treatment_in_children_and_adults_with_spinal_muscular_atrophy_a_lower_tolerance_and_higher_risk_of_hepatotoxicity.pdfTest
http://www.scopus.com/inward/record.url?scp=85179110161&partnerID=8YFLogxKTest

المؤلفون: Shepherdson, James L., Hutchison, Katie, Don, Dilan Wellalage, McGillivray, George, Choi, Tae-Ik, Allan, Carolyn A., Amor, David J., Banka, Siddharth, Basel, Donald G., Buch, Laura D., Carere, Deanna Alexis, Carroll, Renée, Clayton-Smith, Jill, Crawford, Ali, Dunø, Morten, Faivre, Laurence, Gilfillan, Christopher P., Gold, Nina B., Gripp, Karen W., Hobson, Emma, Holtz, Alexander M., Innes, A. Micheil, Isidor, Bertrand, Jackson, Adam, Katsonis, Panagiotis, Amel Riazat Kesh, Leila, Küry, Sébastien, Lecoquierre, François, Lockhart, Paul, Maraval, Julien, Matsumoto, Naomichi, McCarrier, Julie, McCarthy, Josephine, Miyake, Noriko, Moey, Lip Hen, Németh, Andrea H., Østergaard, Elsebet, Patel, Rushina, Pope, Kate, Posey, Jennifer E., Schnur, Rhonda E., Shaw, Marie, Stolerman, Elliot, Taylor, Julie P., Wadman, Erin, Wakeling, Emma, White, Susan M., Wong, Lawrence C., Lupski, James R., Lichtarge, Olivier

المساهمون: NIH, NHGRI, Takeda Science Foundation, AMED, National Research Foundation of Korea

المصدر: The American Journal of Human Genetics ; volume 111, issue 3, page 487-508 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2024.01.007Test
https://api.elsevier.com/content/article/PII:S0002929724000077?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929724000077?httpAccept=text/plainTest

المؤلفون: Berglund, Agnethe, Ornstrup, Marie J., Lind-Holst, Marie, Dunø, Morten, Bækvad-Hansen, Marie, Juul, Anders, Borch, Luise, Jørgensen, Niels, Rasmussen, Åse K., Andersen, Marianne, Main, Katharina M., Hansen, Dorte, Gravholt, Claus H.

المصدر: Berglund , A , Ornstrup , M J , Lind-Holst , M , Dunø , M , Bækvad-Hansen , M , Juul , A , Borch , L , Jørgensen , N , Rasmussen , Å K , Andersen , M , Main , K M , Hansen , D & Gravholt , C H 2023 , ' Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark : a retrospective, population-based study ' , The Lancet Regional Health - Europe , vol. 28 , 100598 . https://doi.org/10.1016/j.lanepe.2023.100598Test

مصطلحات موضوعية: Congenital adrenal hyperplasia, Diagnosis age, Epidemiology, Incidence, Prevalence

العلاقة: https://pure.au.dk/portal/en/publications/e9603de4-fb75-46b6-879f-4d4fa4362910Test

الإتاحة: https://doi.org/10.1016/j.lanepe.2023.100598Test
https://pure.au.dk/portal/en/publications/e9603de4-fb75-46b6-879f-4d4fa4362910Test
http://www.scopus.com/inward/record.url?scp=85149254529&partnerID=8YFLogxKTest

المؤلفون: Hoei-Hansen, Christina Engel, Weber, Lene, Johansen, Mette, Fabricius, Rebecca, Hansen, Jonas Kjeldbjerg, Viuff, Anne Cathrine F., Rønde, Gitte, Hahn, Gitte Holst, Østergaard, Elsebet, Duno, Morten, Larsen, Vibeke Andrée, Madsen, Camilla Gøbel, Røhder, Katrine, Elvrum, Ann Kristin Gunnes, Laugesen, Britt, Ganz, Melanie, Madsen, Kathrine Skak, Willerslev-Olsen, Maria, Debes, Nanette Mol, Christensen, Jan, Christensen, Robin, Rackauskaite, Gija

المصدر: Hoei-Hansen , C E , Weber , L , Johansen , M , Fabricius , R , Hansen , J K , Viuff , A C F , Rønde , G , Hahn , G H , Østergaard , E , Duno , M , Larsen , V A , Madsen , C G , Røhder , K , Elvrum , A K G , Laugesen , B , Ganz , M , Madsen , K S , Willerslev-Olsen , M , Debes , N M , Christensen , J , Christensen , R & Rackauskaite , G 2023 ....

مصطلحات موضوعية: Brain imaging, Cerebral palsy, Early diagnosis, General movements assessment, Genomics, Hand assessment for infants, Intervention, Cerebral Palsy/therapy, Prospective Studies, Prognosis, Humans, Child, Preschool, Infant, Hand, Multicenter Studies as Topic, Newborn

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/4024dc8e-3f38-4a49-ae46-f9d76354605aTest

الإتاحة: https://doi.org/10.1186/s12887-023-04312-7Test
https://portal.findresearcher.sdu.dk/da/publications/4024dc8e-3f38-4a49-ae46-f9d76354605aTest
https://findresearcher.sdu.dk/ws/files/245110522/s12887_023_04312_7.pdfTest

المؤلفون: Hildonen, Mathis, Ferilli, Marco, Hjortshøj, Tina Duelund, Dunø, Morten, Risom, Lotte, Bak, Mads, Ek, Jakob, Møller, Rikke S., Ciolfi, Andrea, Tartaglia, Marco, Tümer, Zeynep

المصدر: Hildonen , M , Ferilli , M , Hjortshøj , T D , Dunø , M , Risom , L , Bak , M , Ek , J , Møller , R S , Ciolfi , A , Tartaglia , M & Tümer , Z 2023 , ' DNA methylation signature classification of rare disorders using publicly available methylation data ' , Clinical Genetics , vol. 103 , no. 6 , pp. 688-692 . https://doi.org/10.1111/cge.14304Test

مصطلحات موضوعية: KMT2D, Kabuki syndrome, Mendelian disorders, VUS classification, epigenetics, episignature, rare disorders, Abnormalities, Multiple/genetics, DNA Methylation, Humans, Vestibular Diseases/genetics, Hematologic Diseases/genetics

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/6ef2c65d-44e3-4bcf-b55a-444161ce9cddTest

الإتاحة: https://doi.org/10.1111/cge.14304Test
https://portal.findresearcher.sdu.dk/da/publications/6ef2c65d-44e3-4bcf-b55a-444161ce9cddTest
https://findresearcher.sdu.dk/ws/files/220564653/Clinical_Genetics_2023_Hildonen_DNA_methylation_signature_classification_of_rare_disorders_using_publicly_available.pdfTest

المؤلفون: Barington, Maria, Dunø, Morten, Birkedal, Ulf, Vissing, John, Born, Alfred Peter, Krag, Thomas, Hansen, Thomas van Overeem, Østergaard, Elsebet

المصدر: Barington , M , Dunø , M , Birkedal , U , Vissing , J , Born , A P , Krag , T , Hansen , T V O & Østergaard , E 2023 , ' Homozygous splice variant (c.1741-6G >A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy ' , Neuromuscular Disorders , vol. 33 , no. 7 , pp. 539-545 . https://doi.org/10.1016/j.nmd.2023.05.007Test

مصطلحات موضوعية: COL6A1, Collagen VI-related dystrophy, Genetics, RNA, Splice variant, Ullrich congenital muscular dystrophy

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.nmd.2023.05.007Test
https://curis.ku.dk/portal/da/publications/homozygous-splice-variant-c17416ga-of-the-col6a1-gene-in-three-patients-with-ullrich-congenital-muscular-dystrophyTest(32ea877a-7b70-4eb8-9257-a5a87ac7882e).html
https://curis.ku.dk/ws/files/367297559/1_s2.0_S096089662300144X_main.pdfTest

المؤلفون: Pedersen, Jonas Jalili, Stemmerik, Mads Godtfeldt, Jacobsen, Laura Nørager, Skriver, Sofie Vinther, Wilms, Gustav Rhode, Duno, Morten, Vissing, John

المصدر: Scientific Reports ; volume 13, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-023-29759-7Test
https://www.nature.com/articles/s41598-023-29759-7.pdfTest
https://www.nature.com/articles/s41598-023-29759-7Test

المؤلفون: Winther, Christina Louise, Nyrann, Sofie, Gaardskaer Nielsen, Rasmus, Duno, Morten, Johansen, Klaus Birkelund, Helt, Thora Wesenberg, Brix Christensen, Vibeke

المصدر: Winther , C L , Nyrann , S , Gaardskaer Nielsen , R , Duno , M , Johansen , K B , Helt , T W & Brix Christensen , V 2024 , ' Danish children with ZZ-homozygous alpha-1 antitrypsin deficiency are more affected on liver parameters than children with heterozygosity ' , Acta paediatrica (Oslo, Norway : 1992) , vol. 113 , no. 3 , pp. 580-589 . https://doi.org/10.1111/apa.17048Test

مصطلحات موضوعية: alpha-1 antitrypsin deficiency, children, fibrosis, liver function, weight-for-height Z-scores, Phenotype, alpha 1-Antitrypsin Deficiency/genetics, Humans, Denmark, Retrospective Studies, alpha 1-Antitrypsin/genetics, Child

العلاقة: https://pure.au.dk/portal/en/publications/61ed716a-ba5c-4354-95d2-244126d5793fTest

الإتاحة: https://doi.org/10.1111/apa.17048Test
https://pure.au.dk/portal/en/publications/61ed716a-ba5c-4354-95d2-244126d5793fTest

المؤلفون: Lindskov, Filippa Orlien, Karlsson, William Kristian, Skovbølling, Sara Lyngby, Nielsen, Emilie Neerup, Dunø, Morten, Stokholm, Jette, Henriksen, Otto Mølby, Langkilde, Annika Reynberg, Nielsen, Jørgen Erik

المصدر: Lindskov , F O , Karlsson , W K , Skovbølling , S L , Nielsen , E N , Dunø , M , Stokholm , J , Henriksen , O M , Langkilde , A R & Nielsen , J E 2024 , ' Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS) ' , Cerebellum , vol. 23 , no. 2 , pp. 861-871 . https://doi.org/10.1007/s12311-023-01582-wTest

مصطلحات موضوعية: ADPRS, ARH3, Ataxia, Autosomal recessive, Cerebellar ataxia, CONDSIAS

الإتاحة: https://doi.org/10.1007/s12311-023-01582-wTest
https://curis.ku.dk/portal/da/publications/expanding-the-spectrum-of-stressinduced-childhoodonset-neurodegeneration-with-variable-ataxia-and-seizures-condsiasTest(aff54b93-6bbf-4394-a83c-0d7337545814).html