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Clincial Genetics, Department of - a part of Copenhagen University Hospital
  1. 2022
  2. Published

    Biochemical and clinical manifestations in adults with hypophosphatasia: a national cross-sectional study

    Hepp, N., Frederiksen, A. L., Duno, M., Jørgensen, N. R. & Jensen, J-E. B., Dec 2022, In: Osteoporosis International. 33, 12, p. 2595-2605 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark

    Møller, R. S., Zhao, L., Shoaff, J. R., Duno, M., Andersen, B. N., Nguyen, V., Fang, T. C., Kupelian, V. & Thorén, R., Dec 2022, In: Molecular Genetics and Metabolism Reports. 33, p. 100924 100924.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

    Mackay, D., Bliek, J., Kagami, M., Tenorio-Castano, J., Pereda, A., Brioude, F., Netchine, I., Papingi, D., de Franco, E., Lever, M., Sillibourne, J., Lombardi, P., Gaston, V., Tauber, M., Diene, G., Bieth, E., Fernandez, L., Nevado, J., Tümer, Z., Riccio, A. & 9 others, Maher, E. R., Beygo, J., Tannorella, P., Russo, S., de Nanclares, G. P., Temple, I. K., Ogata, T., Lapunzina, P. & Eggermann, T., 7 Nov 2022, In: Clinical Epigenetics. 14, 1, p. 143

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Genterapi mod arvelige øjensygdomme

    Kessel, L., Bertelsen, M., Klemp, K. & Christensen, U. C., 7 Nov 2022, In: Ugeskrift for Laeger. 184, 45, V07220453.

    Research output: Contribution to journalReviewResearchpeer-review

  6. Published

    Disease status at diagnosis in Danish children with α1-antitrypsin deficiency

    Winther, C. L., Nyrann, S., Nielsen, R. G., Duno, M., Johansen, K. B., Helt, T. W. & Brix Christensen, V., 1 Nov 2022, In: Journal of Pediatric Gastroenterology and Nutrition. 75, 5, p. 629-634 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Expanding the phenotype of TAB2 variants and literature review

    Woods, E., Marson, I., Coci, E., Spiller, M., Kumar, A., Brady, A., Homfray, T., Fisher, R., Turnpenny, P., Rankin, J., Kanani, F., Platzer, K., Ververi, A., Emmanouilidou, E., Bourboun, N., Giannakoulas, G. & Balasubramanian, M., Nov 2022, In: American Journal of Medical Genetics. Part A. 188, 11, p. 3331-3342 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

    Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Bralo, M. P., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Ferilli, M., Fletcher, R. S., Cherick, F., Foroutan, A. & 72 others, Friez, M. J., Gervasini, C., Haghshenas, S., Hilton, B. A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R. J., Maitz, S., Milani, D., Morgan, A. T., Oegema, R., Østergaard, E., Pallares, N. R., Piccione, M., Plomp, A. S., Poulton, C., Reilly, J., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G. W. E., Santos-Simarro, F., Schijns, J., Squeo, G. M., John, M. S., Thauvin-Robinet, C., Traficante, G., van der Sluijs, P. J., Vergano, S. A., Vos, N., Walden, K. K., Azmanov, D., Balci, T. B., Banka, S., Gecz, J., Henneman, P., Lee, J. A., Mannens, M. M. A. M., Roscioli, T., Siu, V., Amor, D. J., Baynam, G., Bend, E. G., Boycott, K., Brunetti-Pierri, N., Campeau, P. M., Campion, D., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J. A., Fleming, M. D., Genevieve, D., Heron, D., Husson, T., Kernohan, K. D., McNeill, A., Menke, L. A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S. A., Stevenson, R. E., Vincent, M., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. L. & Sadikovic, B., Nov 2022, In: Human Mutation. 43, 11, p. 1609-1628 20 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Genetic predisposition to central nervous system tumors in children - what the neurosurgeon should know

    Foss-Skiftesvik, J. & Stoltze, U. K., Nov 2022, In: Acta Neurochirurgica. 164, 11, p. 3025-3034 10 p.

    Research output: Contribution to journalReviewResearchpeer-review

  10. Published

    β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy

    Pedersen, J. J., Duno, M., Wibrand, F., Hammer, C., Krag, T. & Vissing, J., Nov 2022, In: JIMD Reports. 63, 6, p. 540-545 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. E-pub ahead of print

    RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations

    Kessel, L., Bertelsen, M. & Grønskov, K., 31 Oct 2022, (E-pub ahead of print) In: Ophthalmic Genetics. p. 1-6 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. E-pub ahead of print

    Risks and pregnancy outcome after fetal reduction in dichorionic twin pregnancies: a Danish national retrospective cohort study

    Kristensen, S. E., Ekelund, C. K., Sandager, P., Jørgensen, F. S., Hoseth, E., Sperling, L., Balaganeshan, S. B., Hjortshøj, T. D., Gadsbøll, K., Wright, A., Wright, D., McLennan, A., Sundberg, K. & Petersen, O. B., 29 Oct 2022, (E-pub ahead of print) In: American Journal of Obstetrics and Gynecology.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review

    Beck, S. H., Jelsig, A. M., Yassin, H. M., Lindberg, L. J., Wadt, K. A. W. & Karstensen, J. G., 21 Oct 2022, In: Familial Cancer. 21, 4, p. 453-462 10 p.

    Research output: Contribution to journalReviewResearchpeer-review

  14. E-pub ahead of print

    Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases - data from the E-IMD consortium

    Mütze, U., Gleich, F., Barić, I., Baumgartner, M., Burlina, A., Chapman, K. A., Chien, Y., Cortès-Saladelafont, E., De Laet, C., Dobbelaere, D., Eysken, F., Gautschi, M., Santer, R., Häberle, J., Joaquín, C., Karall, D., Lindner, M., Lund, A. M., Mühlhausen, C., Murphy, E. & 8 others, Roland, D., Ruiz Gomez, A., Skouma, A., Grünert, S. C., Wagenmakers, M., Garbade, S. F., Kölker, S. & Boy, N., 20 Oct 2022, (E-pub ahead of print) In: Journal of Inherited Metabolic Disease.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. E-pub ahead of print

    Safety, outcomes and T cell characteristics in patients with relapsed or refractory MDS or CMML treated with atezolizumab in combination with guadecitabine

    O'Connell, C. L., Baer, M. R., Ørskov, A. D., Saini, S. K., Duong, V. H., Kropf, P., Hansen, J. W., Tsao-Wei, D., Jang, H. S., Emadi, A., Holmberg-Thyden, S., Cowland, J., Brinker, B. T., Horwood, K., Burgos, R., Hostetter, G., Youngblood, B. A., Hadrup, S. R., Issa, J-P., Jones, P. & 3 others, Baylin, S. B., Siddiqi, I. & Grønbæk, K., 12 Oct 2022, (E-pub ahead of print) In: Clinical Cancer Research.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    GEMO Study Collaborators, 6 Oct 2022, In: Communications biology. 5, 1, p. 1061

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. E-pub ahead of print

    Preimplantation genetic testing in two Danish couples affected by Peutz-Jeghers syndrome

    Byrjalsen, A., Roos, L., Diemer, T., Karstensen, J. G., Løssl, K. & Jelsig, A. M., 6 Oct 2022, (E-pub ahead of print) In: Scandinavian Journal of Gastroenterology. p. 1-5 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. E-pub ahead of print

    Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency

    Arribas-Carreira, L., Dallabona, C., Swanson, M. A., Farris, J., Østergaard, E., Tsiakas, K., Hempel, M., Aquaviva-Bourdain, C., Koutsoukos, S., Stence, N. V., Magistrati, M., Spector, E. B., Kronquist, K., Christensen, M., Karstensen, H. G., Feichtinger, R. G., Achleitner, M. T., Lawrence Merritt, J., Pérez, B., Ugarte, M. & 11 others, Grünewald, S., Riela, A. R., Julve, N., Arnoux, J-B., Haldar, K., Donnini, C., Santer, R., Lund, A. M., Mayr, J. A., Rodriguez-Pombo, P. & Van Hove, J. L. K., 3 Oct 2022, (E-pub ahead of print) In: Human Molecular Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

    European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC), 1 Oct 2022, In: Hereditary Cancer in Clinical Practice. 20, 1, 36.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia

    Nielsen, E. N., Ásbjörnsdóttir, B., Møller, L. B., Nielsen, J. E. & Lindquist, S. G., Oct 2022, In: Cold Spring Harbor Molecular Case Studies. 8, 6, a006236.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. E-pub ahead of print

    Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up

    Lisbjerg, K., Bertelsen, M., Lyng Forman, J., Grønskov, K., Prener Holtan, J. & Kessel, L., 26 Sep 2022, (E-pub ahead of print) In: Ophthalmic Genetics. p. 1-8 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Cancer-related Mutations with Local or Long-range Effects on an Allosteric Loop of p53

    Degn, K., Beltrame, L., Dahl Hede, F., Sora, V., Nicolaci, V., Vabistsevits, M., Schmiegelow, K., Wadt, K., Tiberti, M., Lambrughi, M. & Papaleo, E., 15 Sep 2022, In: Journal of Molecular Biology. 434, 17, 33 p., 167663.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. E-pub ahead of print
  24. Published

    Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

    Langouët, M., Jolicoeur, C., Javed, A., Mattar, P., Gearhart, M. D., Daiger, S. P., Bertelsen, M., Tranebjærg, L., Rendtorff, N. D., Grønskov, K., Jespersgaard, C., Chen, R., Sun, Z., Li, H., Alirezaie, N., Majewski, J., Bardwell, V. J., Sui, R., Koenekoop, R. K. & Cayouette, M., 9 Sep 2022, In: Science Advances. 8, 36, p. eabh2868 eabh2868.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

    Rendtorff, N. D., Karstensen, H. G., Lodahl, M., Tolmie, J., McWilliam, C., Bak, M., Tommerup, N., Nazaryan-Petersen, L., Kunst, H., Wong, M., Joss, S., Carelli, V. & Tranebjærg, L., 2 Sep 2022, In: Scientific Reports. 12, 1, p. 14959 14959.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

    Kaiyrzhanov, R., Mohammed, S. E. M., Maroofian, R., Husain, R. A., Catania, A., Torraco, A., Alahmad, A., Dutra-Clarke, M., Grønborg, S., Sudarsanam, A., Vogt, J., Arrigoni, F., Baptista, J., Haider, S., Feichtinger, R. G., Bernardi, P., Zulian, A., Gusic, M., Efthymiou, S., Bai, R. & 34 others, Bibi, F., Horga, A., Martinez-Agosto, J. A., Lam, A., Manole, A., Rodriguez, D-P., Durigon, R., Pyle, A., Albash, B., Dionisi-Vici, C., Murphy, D., Martinelli, D., Bugiardini, E., Allis, K., Lamperti, C., Reipert, S., Risom, L., Laugwitz, L., Di Nottia, M., McFarland, R., Vilarinho, L., Hanna, M., Prokisch, H., Mayr, J. A., Bertini, E. S., Ghezzi, D., Østergaard, E., Wortmann, S. B., Carrozzo, R., Haack, T. B., Taylor, R. W., Spinazzola, A., Nowikovsky, K. & Houlden, H., 1 Sep 2022, In: American Journal of Human Genetics. 109, 9, p. 1692-1712 21 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published
  28. Published

    Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures

    Sølyst, S., Oksjoki, R., Farholt, S., Nielsen, D. G., Christensen, A. H., Fagerberg, C. R., Risom, L., Gregersen, P. A., Christensen, M. B., Rasmussen, T. B. & Diness, B. R., Sep 2022, In: Clinical Genetics. 102, 3, p. 191-200 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    The impact of metabolic supply lines - and the patterns between them - on the development of distant metastases in 64 women with breast cancer

    Abrahamsen, O., Balslev, E., Christensen, M., Wibrand, F., Budtz-Jørgensen, E. & Høgdall, E., Sep 2022, In: Oncology letters. 24, 3, p. 327 327.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    Three novel FHL1 Variants cause a mild Phenotype of Emery-Dreifuss Muscular Dystrophy

    Borch, J. D. S., Krag, T., Holm-Yildiz, S. D., Cetin, H., Solheim, T. A., Fornander, F., Straub, V., Duno, M. & Vissing, J., Sep 2022, In: Human Mutation. 43, 9, p. 1234-1238 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. E-pub ahead of print

    Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study

    Jelsig, A. M., Kjeldsen, A., Christensen, L. L., Bertelsen, B., Karstensen, J. G., Brusgaard, K. & Torring, P. M., 29 Aug 2022, (E-pub ahead of print) In: Journal of Medical Genetics. 108766.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published
  33. E-pub ahead of print

    Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants: application of a points-based ACMG/AMP approach

    Thomassen, M., Mesman, R. L. S., Hansen, T. V. O., Menendez, M., Rossing, M., Esteban-Sánchez, A., Tudini, E., Törngren, T., Parsons, M. T., Pedersen, I. S., Teo, S. H., Kruse, T. A., Møller, P., Borg, Å., Jensen, U. B., Christensen, L. L., Singer, C. F., Muhr, D., Santamarina, M., Brandao, R. & 30 others, Andresen, B. S., Feng, B-J., Canson, D., Richardson, M. E., Karam, R., Pesaran, T., LaDuca, H., Conner, B. R., Abualkheir, N., Hoang, L., Calléja, F. M. G. R., Andrews, L., James, P. A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D. E., Walker, L. C., Engel, C., Claes, K. B. M., Macháčková, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., Consortium, E., Vreeswijk, M. P. G., de la Hoya, M. & Spurdle, A. B., 18 Aug 2022, (E-pub ahead of print) In: Human Mutation.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. E-pub ahead of print

    Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth

    Schönewolf-Greulich, B., Karstensen, H. G., Hjortshøj, T. D., Jørgensen, F. S., Harder, K. M., Frevert, S., Hove, H. & Diness, B. R., 11 Aug 2022, (E-pub ahead of print) In: European Journal of Medical Genetics. 65, 10, p. 104590 104590.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

    Christensen, M. B., Levy, A. M., Mohammadi, N. A., Niceta, M., Kaiyrzhanov, R., Dentici, M. L., Alam, C. A., Alesi, V., Benoit, V., Bhatia, K. P., Bierhals, T., Boßelmann, C. M., Buratti, J., Callewaert, B., Ceulemans, B., Charles, P., De Wachter, M., Dehghani, M., D'haenens, E., Doco-Fenzy, M. & 37 others, Geßner, M., Gobert, C., Guliyeva, U., Haack, T. B., Hammer, T. B., Heinrich, T., Hempel, M., Herget, T., Hoffmann, U., Horvath, J., Houlden, H., Keren, B., Kresge, C., Kumps, C., Lederer, D., Lermine, A., Magrinelli, F., Maroofian, R., Mehrjardi, M. Y. V., Moudi, M., Müller, A. J., Oostra, A. J., Pletcher, B. A., Ros-Pardo, D., Samarasekera, S., Tartaglia, M., Van Schil, K., Vogt, J., Wassmer, E., Winkelmann, J., Zaki, M. S., Zech, M., Lerche, H., Radio, F. C., Gomez-Puertas, P., Møller, R. S. & Tümer, Z., Aug 2022, In: Clinical Genetics. 102, 2, p. 98-109 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation

    McTiernan, N., Tranebjærg, L., Bjørheim, A. S., Hogue, J. S., Wilson, W. G., Schmidt, B., Boerrigter, M. M., Nybo, M. L., Smeland, M. F., Tümer, Z. & Arnesen, T., Aug 2022, In: Human Genetics. 141, 8, p. 1355-1369 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance

    Louise M Binderup, M., Smerdel, M., Borgwadt, L., Beck Nielsen, S. S., Madsen, M. G., Møller, H. U., Kiilgaard, J. F., Friis-Hansen, L., Harbud, V., Cortnum, S., Owen, H., Gimsing, S., Friis Juhl, H. A., Munthe, S., Geilswijk, M., Rasmussen, Å. K., Møldrup, U., Graumann, O., Donskov, F., Grønbæk, H. & 11 others, Stausbøl-Grøn, B., Schaffalitzky de Muckadell, O., Knigge, U., Dam, G., Wadt, K. A., Bøgeskov, L., Bagi, P., Lund, L., Stochholm, K., Ousager, L. B. & Sunde, L., Aug 2022, In: European Journal of Medical Genetics. 65, 8, 104538.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. E-pub ahead of print

    De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity

    Johannesen, K. M., Gardella, E., Ahring, P. K. & Møller, R. S., 31 Jul 2022, (E-pub ahead of print) In: European Journal of Medical Genetics. 65, 10, p. 104577 104577.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. E-pub ahead of print

    Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer

    Djursby, M., Hansen, T. V. O., Wadt, K. A. W., Madsen, M. B., Berchtold, L. A., Lautrup, C. K., Markholt, S., Jensen, U. B., Krogh, L. N., Lundsgaard, M., Gerdes, A. M., Nilbert, M. & Therkildsen, C., 29 Jul 2022, (E-pub ahead of print) In: Human Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. E-pub ahead of print
  41. Published

    Telomersygdomme

    Byrjalsen, A., Bygum, A., Lautrup, C. K., Frederiksen, A. L., Fialla, A. D., Raaschou-Jensen, K., Bendstrup, E., Madsen, T. N., Klarskov, M. & Jelsig, A. M., 11 Jul 2022, In: Ugeskrift for Laeger. 184, 28, V03220220.

    Research output: Contribution to journalReviewResearchpeer-review

  42. Published

    Bone-microarchitecture and bone-strength in a sample of adults with hypophosphatasia and a matched reference population assessed by HR-pQCT and impact microindentation

    Hepp, N., Folkestad, L., Møllebæk, S., Frederiksen, A. L., Duno, M., Jørgensen, N. R., Hermann, A. P. & Jensen, J-E. B., Jul 2022, In: Bone. 160, p. 1-8 8 p., 116420.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features

    Bayat, A., Krett, B., Dunø, M., Torring, P. M. & Vissing, J., Jul 2022, In: American Journal of Medical Genetics. Part A. 188, 7, p. 2251-2257 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    Risk of somatic hospitalization in parents after cancer in a child, a nationwide cohort study

    von Heymann, A., Alef-Defoe, S., Salem, H., Andersen, E. A. W., Dalton, S. O., Schmiegelow, K., Wadt, K. A. W., Winther, J. F., Johansen, C. & Bidstrup, P. E., Jul 2022, In: Psycho-Oncology. 31, 7, p. 1196-1203 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients

    Tan, M., Brusgaard, K., Gerdes, A-M., Larsen, M. J., Mortensen, M. B., Detlefsen, S., de Muckadell, O. B. S. & Joergensen, M. T., Jul 2022, In: Annals of human genetics. 86, 4, p. 195-206 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. E-pub ahead of print
  47. Published

    Genetikken fremmer individualiseret behandling af epilepsi

    Johannesen, K. M., Bayat, A., Hammer, T. B. & Møller, R. S., 27 Jun 2022, In: Ugeskrift for læger [online].

    Research output: Contribution to journalReviewResearchpeer-review

  48. Published
  49. Published

    A predictive model for bone marrow disease in cytopenia based on noninvasive procedures

    Træden, D., Tulstrup, M., Cowland, J. B., Sjö, L. D., Bøgsted, M., Grønbæk, K., Andersen, M. K. & Hansen, J. W., 14 Jun 2022, In: Blood advances. 6, 11, p. 3541-3550 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Published
  51. Published

    Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study

    Kuht, H. J., Maconachie, G. D. E., Han, J., Kessel, L., van Genderen, M. M., McLean, R. J., Hisaund, M., Tu, Z., Hertle, R. W., Gronskov, K., Bai, D., Wei, A., Li, W., Jiao, Y., Smirnov, V., Choi, J-H., Tobin, M. D., Sheth, V., Purohit, R., Dawar, B. & 19 others, Girach, A., Strul, S., May, L., Chen, F. K., Heath Jeffery, R. C., Aamir, A., Sano, R., Jin, J., Brooks, B. P., Kohl, S., Arveiler, B., Montoliu, L., Engle, E. C., Proudlock, F. A., Nishad, G., Pani, P., Varma, G., Gottlob, I. & Thomas, M. G., Jun 2022, In: Ophthalmology. 129, 6, p. 708-718 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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