Results
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Partial USH2A deletions contribute to Usher syndrome in Denmark. [electronic resource] by
- Dad, Shzeena
- Rendtorff, Nanna D
- Kann, Erik
- Albrechtsen, Anders
- Mehrjouy, Mana M
- Bak, Mads
- Tommerup, Niels
- Tranebjærg, Lisbeth
- Rosenberg, Thomas
- Jensen, Hanne
- Møller, Lisbeth B
Producer: 20160824
In:
European journal of human genetics : EJHG vol. 23
Availability: No items available.
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63.
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Partial USH2A deletions contribute to Usher syndrome in Denmark. [electronic resource] by
- Dad, Shzeena
- Rendtorff, Nanna D
- Kann, Erik
- Albrechtsen, Anders
- Mehrjouy, Mana M
- Bak, Mads
- Tommerup, Niels
- Tranebjærg, Lisbeth
- Rosenberg, Thomas
- Jensen, Hanne
- Møller, Lisbeth B
Producer: 20160216
In:
European journal of human genetics : EJHG vol. 23
Availability: No items available.
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64.
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Usher syndrome in Denmark: mutation spectrum and some clinical observations. [electronic resource] by
- Dad, Shzeena
- Rendtorff, Nanna Dahl
- Tranebjærg, Lisbeth
- Grønskov, Karen
- Karstensen, Helena Gásdal
- Brox, Vigdis
- Nilssen, Øivind
- Roux, Anne-Françoise
- Rosenberg, Thomas
- Jensen, Hanne
- Møller, Lisbeth Birk
Publication details: Molecular genetics & genomic medicine Sep 2016
In:
Molecular genetics & genomic medicine vol. 4
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65.
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Rac1 governs exercise-stimulated glucose uptake in skeletal muscle through regulation of GLUT4 translocation in mice. [electronic resource] by
- Sylow, Lykke
- Nielsen, Ida L
- Kleinert, Maximilian
- Møller, Lisbeth L V
- Ploug, Thorkil
- Schjerling, Peter
- Bilan, Philip J
- Klip, Amira
- Jensen, Thomas E
- Richter, Erik A
Producer: 20170829
In:
The Journal of physiology vol. 594
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66.
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67.
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Biopterin responsive phenylalanine hydroxylase deficiency. [electronic resource] by
- Matalon, Reuben
- Koch, Richard
- Michals-Matalon, Kimberlee
- Moseley, Kathryn
- Surendran, Sankar
- Tyring, Stephen
- Erlandsen, Heidi
- Gamez, Alejandra
- Stevens, Raymond C
- Romstad, Anne
- Møller, Lisbeth B
- Guttler, Flemming
Producer: 20040708
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 6
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68.
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Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity. [electronic resource] by
- Nasser, Arafat
- Møller, Anette Torvin
- Hellmund, Vibe
- Thorborg, Sidsel Salling
- Jespersgaard, Cathrine
- Bjerrum, Ole J
- Dupont, Erik
- Nachman, Gösta
- Lykkesfeldt, Jens
- Jensen, Troels Staehelin
- Møller, Lisbeth Birk
Producer: 20190610
In:
Pain vol. 159
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69.
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Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels. [electronic resource] by
- Ahring, Kirsten K
- Lund, Allan M
- Jensen, Erik
- Jensen, Thomas G
- Brøndum-Nielsen, Karen
- Pedersen, Michael
- Bardow, Allan
- Holst, Jens Juul
- Rehfeld, Jens F
- Møller, Lisbeth B
Publication details: Journal of nutrition and metabolism 2018
In:
Journal of nutrition and metabolism vol. 2018
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70.
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The quaternary structure of human tyrosine hydroxylase: effects of dystonia-associated missense variants on oligomeric state and enzyme activity. [electronic resource] by
- Szigetvari, Peter D
- Muruganandam, Gopinath
- Kallio, Juha P
- Hallin, Erik I
- Fossbakk, Agnete
- Loris, Remy
- Kursula, Inari
- Møller, Lisbeth B
- Knappskog, Per M
- Kursula, Petri
- Haavik, Jan
Producer: 20191028
In:
Journal of neurochemistry vol. 148
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71.
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Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex. [electronic resource] by
- Møller, Lisbeth Birk
- Schönewolf-Greulich, Bitten
- Rosengren, Thomas
- Larsen, Lasse Jonsgaard
- Ostergaard, John R
- Sommerlund, Mette
- Ostenfeldt, Caroline
- Stausbøl-Grøn, Brian
- Linnet, Karen Markussen
- Gregersen, Pernille Axél
- Jensen, Uffe Birk
Producer: 20170829
In:
Molecular genetics and metabolism vol. 120
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72.
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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. [electronic resource] by
- Jespersgaard, Cathrine
- Fang, Mingyan
- Bertelsen, Mette
- Dang, Xiao
- Jensen, Hanne
- Chen, Yulan
- Bech, Niels
- Dai, Lanlan
- Rosenberg, Thomas
- Zhang, Jianguo
- Møller, Lisbeth Birk
- Tümer, Zeynep
- Brøndum-Nielsen, Karen
- Grønskov, Karen
Producer: 20200828
In:
Scientific reports vol. 9
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73.
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Clinical expression of Menkes disease in females with normal karyotype. [electronic resource] by
- Møller, Lisbeth Birk
- Lenartowicz, Malgorzata
- Zabot, Marie-Therese
- Josiane, Arnaud
- Burglen, Lydie
- Bennett, Chris
- Riconda, Daniel
- Fisher, Richard
- Janssens, Sandra
- Mohammed, Shehla
- Ausems, Margreet
- Tümer, Zeynep
- Horn, Nina
- Jensen, Thomas G
Producer: 20120605
In:
Orphanet journal of rare diseases vol. 7
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74.
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Housing temperature influences exercise training adaptations in mice. [electronic resource] by
- Raun, Steffen H
- Henriquez-Olguín, Carlos
- Karavaeva, Iuliia
- Ali, Mona
- Møller, Lisbeth L V
- Kot, Witold
- Castro-Mejía, Josué L
- Nielsen, Dennis Sandris
- Gerhart-Hines, Zachary
- Richter, Erik A
- Sylow, Lykke
Producer: 20200714
In:
Nature communications vol. 11
Availability: No items available.
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75.
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Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase. [electronic resource] by
- Huppke, Peter
- Brendel, Cornelia
- Korenke, Georg Christoph
- Marquardt, Iris
- Donsante, Anthony
- Yi, Ling
- Hicks, Julia D
- Steinbach, Peter J
- Wilson, Callum
- Elpeleg, Orly
- Møller, Lisbeth Birk
- Christodoulou, John
- Kaler, Stephen G
- Gärtner, Jutta
Producer: 20121128
In:
Human mutation vol. 33
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76.
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Differential effects of high-fat diet and exercise training on bone and energy metabolism. [electronic resource] by
- Picke, Ann-Kristin
- Sylow, Lykke
- Møller, Lisbeth L V
- Kjøbsted, Rasmus
- Schmidt, Felix N
- Steejn, Mikkel Wermer
- Salbach-Hirsch, Juliane
- Hofbauer, Christine
- Blüher, Matthias
- Saalbach, Anja
- Busse, Björn
- Rauner, Martina
- Hofbauer, Lorenz C
Producer: 20190716
In:
Bone vol. 116
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77.
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A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium. [electronic resource] by
- Jespersgaard, Cathrine
- Hey, Amalie Brunbjerg
- Ilginis, Tomas
- Hjortshøj, Tina Duelund
- Fang, Mingyan
- Bertelsen, Mette
- Bech, Niels
- Jensen, Hanne
- Larsen, Lasse Jonsgaard
- Tümer, Zeynep
- Rosenberg, Thomas
- Brøndum-Nielsen, Karen
- Møller, Lisbeth Birk
- Grønskov, Karen
Producer: 20200415
In:
Investigative ophthalmology & visual science vol. 61
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78.
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Clinical genetics and the Hutterite population: a review of Mendelian disorders. [electronic resource] by
- Boycott, Kym M
- Parboosingh, Jillian S
- Chodirker, Bernie N
- Lowry, R Brian
- McLeod, D Ross
- Morris, Jackie
- Greenberg, Cheryl R
- Chudley, Albert E
- Bernier, Francois P
- Midgley, Julian
- Møller, Lisbeth Birk
- Innes, A Micheil
Producer: 20080429
In:
American journal of medical genetics. Part A vol. 146A
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79.
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[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier]. [electronic resource] by
- Ormazabal, Aida
- García Cazorla, Angels
- Pérez Dueñas, Belén
- Pineda, Mercé
- Ruiz, Angeles
- López Laso, Eduardo
- García Silva, Maite
- Carilho, Inés
- Barbot, Clara
- Cormand, Bru
- Ribases, Marta
- Moller, Lisbeth
- Fernández Alvarez, Emilio
- Campistol, Jaume
- Artuch, Rafael
Producer: 20061108
In:
Medicina clinica vol. 127
Availability: No items available.
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80.
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Mechanisms involved in follistatin-induced hypertrophy and increased insulin action in skeletal muscle. [electronic resource] by
- Han, Xiuqing
- Møller, Lisbeth Liliendal Valbjørn
- De Groote, Estelle
- Bojsen-Møller, Kirstine Nyvold
- Davey, Jonathan
- Henríquez-Olguin, Carlos
- Li, Zhencheng
- Knudsen, Jonas Roland
- Jensen, Thomas Elbenhardt
- Madsbad, Sten
- Gregorevic, Paul
- Richter, Erik Arne
- Sylow, Lykke
Producer: 20200727
In:
Journal of cachexia, sarcopenia and muscle vol. 10
Availability: No items available.
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