Oculocutaneous albinism
Grønskov, Karen, Ek, Jakob, Brondum-Nielsen, Karen
Published in Orphanet journal of rare diseases (02.11.2007)
Published in Orphanet journal of rare diseases (02.11.2007)
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Journal Article
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex
Rosengren, Thomas, Nanhoe, Santoesha, de Almeida, Luis Gustavo Dufner, Schönewolf-Greulich, Bitten, Larsen, Lasse Jonsgaard, Hey, Caroline Amalie Brunbjerg, Dunø, Morten, Ek, Jakob, Risom, Lotte, Nellist, Mark, Møller, Lisbeth Birk
Published in Scientific reports (18.06.2020)
Published in Scientific reports (18.06.2020)
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Journal Article
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome
Larsen, Jan, Johannesen, Katrine Marie, Ek, Jakob, Tang, Shan, Marini, Carla, Blichfeldt, Susanne, Kibæk, Maria, Spiczak, Sarah, Weckhuysen, Sarah, Frangu, Mimoza, Neubauer, Bernd Axel, Uldall, Peter, Striano, Pasquale, Zara, Federico, Kleiss, Rebecca, Simpson, Michael, Muhle, Hiltrud, Nikanorova, Marina, Jepsen, Birgit, Tommerup, Niels, Stephani, Ulrich, Guerrini, Renzo, Duno, Morten, Hjalgrim, Helle, Pal, Deb, Helbig, Ingo, Møller, Rikke Steensbjerre, Craiu, DC, Caglayan, HS, Talvik, T, Weber, YG, Barisic, N
Published in Epilepsia (Copenhagen) (01.12.2015)
Published in Epilepsia (Copenhagen) (01.12.2015)
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Journal Article
Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years
Kirk, Frederik Teicher, Munk, Ditte Emilie, Ek, Jakob, Birk Møller, Lisbeth, Bendixen Thorup, Mette, Hvid Danielsen, Erik, Vilstrup, Hendrik, Ott, Peter, Damgaard Sandahl, Thomas
Published in Frontiers in neurology (01.09.2022)
Published in Frontiers in neurology (01.09.2022)
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Journal Article
Simultaneous debut of spontaneous intestinal perforation in a pair of preterm monozygotic twins assessed by whole genome sequencing
Juul, Nikolai, Willacy, Oliver, Maagaard, Mathilde, Olsen, Tina, Ek, Jakob, Ifaoui, Inge, Fossum, Magdalena
Published in Journal of pediatric surgery case reports (01.01.2022)
Published in Journal of pediatric surgery case reports (01.01.2022)
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Journal Article
Is MED13L-related intellectual disability a recognizable syndrome?
Tørring, Pernille Mathiesen, Larsen, Martin Jakob, Brasch-Andersen, Charlotte, Krogh, Lotte Nylandsted, Kibæk, Maria, Laulund, Lone, Illum, Niels, Dunkhase-Heinl, Ulrike, Wiesener, Antje, Popp, Bernt, Marangi, Giuseppe, Hjortshøj, Tina Duelund, Ek, Jakob, Vogel, Ida, Becher, Naja, Roos, Laura, Zollino, Marcella, Fagerberg, Christina Ringmann
Published in European journal of medical genetics (01.02.2019)
Published in European journal of medical genetics (01.02.2019)
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Journal Article
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition
Wadt, Karin A W, Aoude, Lauren G, Krogh, Lotte, Sunde, Lone, Bojesen, Anders, Grønskov, Karen, Wartacz, Nine, Ek, Jakob, Tolstrup-Andersen, Morten, Klarskov-Andersen, Mette, Borg, Åke, Heegaard, Steffen, Kiilgaard, Jens F, Hansen, Thomas V O, Klein, Kerenaftali, Jönsson, Göran, Drzewiecki, Krzysztof T, Dunø, Morten, Hayward, Nicholas K, Gerdes, Anne-Marie
Published in PloS one (24.03.2015)
Published in PloS one (24.03.2015)
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Journal Article
Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene
Jensen, Kristian Vestergaard, Frid, Maria, Stödberg, Tommy, Barbaro, Michela, Wedell, Anna, Christensen, Mette, Bak, Mads, Ek, Jakob, Madsen, Camilla Gøbel, Darin, Niklas, Grønborg, Sabine
Published in JIMD reports (01.11.2019)
Published in JIMD reports (01.11.2019)
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Journal Article
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90
Almind, Gitte J, Ek, Jakob, Rosenberg, Thomas, Eiberg, Hans, Larsen, Michael, Lucamp, Lucamp, Brøndum-Nielsen, Karen, Grønskov, Karen
Published in BMC genetics (02.08.2012)
Published in BMC genetics (02.08.2012)
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Journal Article
Association between Neuromedin U Gene Variants and Overweight and Obesity
Hainerová, Irena, Torekov, Signe S, Ek, Jakob, Finková, Marie, Borch-Johnsen, Knut, Jørgensen, Torben, Madsen, Ole D, Lebl, Jan, Hansen, Torben, Pedersen, Oluf
Published in The journal of clinical endocrinology and metabolism (01.12.2006)
Published in The journal of clinical endocrinology and metabolism (01.12.2006)
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Journal Article
Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
Almind, Gitte J, Grønskov, Karen, Milea, Dan, Larsen, Michael, Brøndum-Nielsen, Karen, Ek, Jakob
Published in BMC medical genetics (04.04.2011)
Published in BMC medical genetics (04.04.2011)
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Journal Article
A −30G>A Polymorphism of the β-Cell–Specific Glucokinase Promoter Associates With Hyperglycemia in the General Population of Whites
Rose, Christian S., Ek, Jakob, Urhammer, Søren A., Glümer, Charlotte, Borch-Johnsen, Knut, Jørgensen, Torben, Pedersen, Oluf, Hansen, Torben
Published in Diabetes (New York, N.Y.) (01.10.2005)
Published in Diabetes (New York, N.Y.) (01.10.2005)
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Journal Article
Analysis of Separate and Combined Effects of Common Variation in KCNJ11 and PPARG on Risk of Type 2 Diabetes
Hansen, Sara K, Nielsen, Eva-Maria D, Ek, Jakob, Andersen, Gitte, Glümer, Charlotte, Carstensen, Bendix, Mouritzen, Peter, Drivsholm, Thomas, Borch-Johnsen, Knut, Jørgensen, Torben, Hansen, Torben, Pedersen, Oluf
Published in The journal of clinical endocrinology and metabolism (01.06.2005)
Published in The journal of clinical endocrinology and metabolism (01.06.2005)
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Journal Article
A Novel −192c/g Mutation in the Proximal P2 Promoter of the Hepatocyte Nuclear Factor-4α Gene (HNF4A) Associates With Late-Onset Diabetes
Ek, Jakob, Hansen, Sara P, Lajer, Maria, Nicot, Carine, Boesgaard, Trine W, Pruhova, Stepanka, Johansen, Anders, Albrechtsen, Anders, Yderstraede, Knud, Lauenborg, Jeannet, Parrizas, Marcelina, Boj, Sylvia F, Jørgensen, Torben, Borch-Johnsen, Knut, Damm, Peter, Ferrer, Jorge, Lebl, Jan, Pedersen, Oluf, Hansen, Torben
Published in Diabetes (New York, N.Y.) (01.06.2006)
Published in Diabetes (New York, N.Y.) (01.06.2006)
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Journal Article
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology
Aagaard Nolting, Line, Holling, Tess, Nishimura, Gen, Ek, Jakob, Bak, Mads, Ljungberg, Merete, Kutsche, Kerstin, Hove, Hanne
Published in Clinical genetics (01.09.2024)
Published in Clinical genetics (01.09.2024)
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Journal Article
Variation in NCB5OR
Andersen, Gitte, Wegner, Lise, Rose, Christian Schack, Xie, Jianxin, Zhu, Hao, Larade, Kevin, Johansen, Anders, Ek, Jakob, Lauenborg, Jeannet, Drivsholm, Thomas, Borch-Johnsen, Knut, Damm, Peter, Hansen, Torben, Bunn, H. Franklin, Pedersen, Oluf
Published in Diabetes (New York, N.Y.) (01.11.2004)
Published in Diabetes (New York, N.Y.) (01.11.2004)
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Journal Article
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease
Zheng, Wen-Qiang, Pedersen, Signe Vandal, Thompson, Kyle, Bellacchio, Emanuele, French, Courtney E, Munro, Benjamin, Pearson, Toni S, Vogt, Julie, Diodato, Daria, Diemer, Tue, Ernst, Anja, Horvath, Rita, Chitre, Manali, Ek, Jakob, Wibrand, Flemming, Grange, Dorothy K, Raymond, Lucy, Zhou, Xiao-Long, Taylor, Robert W, Ostergaard, Elsebet
Published in Human molecular genetics (21.02.2022)
Published in Human molecular genetics (21.02.2022)
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Journal Article
The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome
Pisan, Elise, De Luca, Chiara, Brancati, Francesco, Sanchez Russo, Rossana, Li, Dong, Bhoj, Elizabeth, Wenger, Tara, Marwaha, Ashish, Johnson, Nicole, Beneteau, Claire, Brischoux-Boucher, Elise, Houge, Gunnar, Paulsen, Julie, Hammer, Trine Bjørg, Ek, Jakob, Schweitzer, Daniela, Russell, Bianca E, Dutra-Clarke, Marina, Nelson, Stanley, Douine, Emilie D, Corona, Rosario I, Dudding, Tracy, Thomson, Hannah, Low, Karen, Belnap, Newell, Iascone, Maria, Priolo, Manuela, Carli, Diana, Mussa, Alessandro, Bijlsma, Emilia K, Kopp, Nathan, Jais, Jean-Philippe, Amiel, Jeanne, Gordon, Christopher T
Published in Proceedings of the National Academy of Sciences - PNAS (19.03.2024)
Published in Proceedings of the National Academy of Sciences - PNAS (19.03.2024)
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Journal Article