Search the collection

31 results for Ostergaard,+Elsebet

Sort by:

Sort by

Limit results to:

20 per page

31 results for Ostergaard,+Elsebet

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 21
ArticlesPeer ReviewedFull Text
A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses
Author / Creator:Alstrup, Morten ; Vogel, Ida ; Sandager, Puk ; Blechingberg, Jenny ; Becher, Naja ; Østergaard, Elsebet
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2021-05, Vol.59 (1), p.20-25
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 22
ArticlesPeer ReviewedFull Text
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature
Author / Creator:Ostergaard, Elsebet ; Weraarpachai, Woranontee ; Ravn, Kirstine ; Born, Alfred Peter ; Jønson, Lars ; Duno, Morten ; Wibrand, Flemming ; Shoubridge, Eric A ; Vissing, John
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-03, Vol.52 (3), p.203-207
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 23
ArticlesPeer ReviewedFull Text
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients
Author / Creator:Sofou, Kalliopi ; de Coo, Irenaeus F M ; Ostergaard, Elsebet ; Isohanni, Pirjo ; Naess, Karin ; De Meirleir, Linda ; Tzoulis, Charalampos ; Uusimaa, Johanna ; Lönnqvist, Tuula ; Bindoff, Laurence Albert ; Tulinius, Már ; Darin, Niklas
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-01, Vol.55 (1), p.21-27
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 24
ArticlesPeer ReviewedFull Text
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Author / Creator:Repp, Birgit M ; Mastantuono, Elisa ; Alston, Charlotte L ; Schiff, Manuel ; Haack, Tobias B ; Rötig, Agnes ; Ardissone, Anna ; Lombès, Anne ; Catarino, Claudia B ; Diodato, Daria ; Schottmann, Gudrun ; Poulton, Joanna ; Burlina, Alberto ; Jonckheere, An ; Munnich, Arnold ; Rolinski, Boris ; Ghezzi, Daniele ; Rokicki, Dariusz ; Wellesley, Diana ; Martinelli, Diego ; Wenhong, Ding ; Lamantea, Eleonora ; Ostergaard, Elsebet ; Pronicka, Ewa ; Pierre, Germaine ; Smeets, Hubert J M ; Wittig, Ilka ; Scurr, Ingrid ; de Coo, Irenaeus F M ; Moroni, Isabella ; Smet, Joél ; Mayr, Johannes A ; Dai, Lifang ; de Meirleir, Linda ; Schuelke, Markus ; Zeviani, Massimo ; Morscher, Raphael J ; McFarland, Robert ; Seneca, Sara ; Klopstock, Thomas ; Meitinger, Thomas ; Wieland, Thomas ; Strom, Tim M ; Herberg, Ulrike ; Ahting, Uwe ; Sperl, Wolfgang ; Nassogne, Marie-Cecile ; Ling, Han ; Fang, Fang ; Freisinger, Peter ; Van Coster, Rudy ; Strecker, Valentina ; Taylor, Robert W ; Häberle, Johannes ; Vockley, Jerry ; Prokisch, Holger ; Wortmann, Saskia
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-07, Vol.13 (1), p.120-120, Article 120
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 25
ArticlesPeer ReviewedFull Text
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
Author / Creator:Carrozzo, Rosalba ; Verrigni, Daniela ; Rasmussen, Magnhild ; de Coo, Rene ; Amartino, Hernan ; Bianchi, Marzia ; Buhas, Daniela ; Mesli, Samir ; Naess, Karin ; Born, Alfred Peter ; Woldseth, Berit ; Prontera, Paolo ; Batbayli, Mustafa ; Ravn, Kirstine ; Joensen, Fróði ; Cordelli, Duccio M. ; Santorelli, Filippo Maria ; Tulinius, Mar ; Darin, Niklas ; Duno, Morten ; Jouvencel, Philippe ; Burlina, Alberto ; Stangoni, Gabriela ; Bertini, Enrico ; Redonnet-Vernhet, Isabelle ; Wibrand, Flemming ; Dionisi-Vici, Carlo ; Uusimaa, Johanna ; Vieira, Paivi ; Osorio, Andrés Nascimento ; McFarland, Robert ; Taylor, Robert W. ; Holme, Elisabeth ; Ostergaard, Elsebet
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.243-252
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 26
ArticlesPeer ReviewedFull Text
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Author / Creator:Pronicka, Ewa ; Ropacka-Lesiak, Mariola ; Trubicka, Joanna ; Pajdowska, Magdalena ; Linke, Markus ; Ostergaard, Elsebet ; Saunders, Carol ; Horsch, Sandra ; van Karnebeek, Clara ; Yaplito-Lee, Joy ; Distelmaier, Felix ; Õunap, Katrin ; Rahman, Shamima ; Castelle, Martin ; Kelleher, John ; Baris, Safa ; Iwanicka-Pronicka, Katarzyna ; Steward, Colin G. ; Ciara, Elżbieta ; Wortmann, Saskia B.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-11, Vol.40 (6), p.853-860
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 27
ArticlesPeer ReviewedFull Text
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
Author / Creator:Ostergaard, E ; Batbayli, M ; Duno, M ; Vilhelmsen, K ; Rosenberg, T
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-10, Vol.47 (10), p.665-669
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 28
ArticlesFull Text
receptor expression in the forebrain of ataxic rolling Nagoya mice
Author / Creator:Kaja, Simon ; Nielsen, Elsebet Ostergaard
Publisher:HATASO Enterprises, LLC
Journal title:Biology and medicine, 2014-01, Vol.6 (1)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 29
ArticlesPeer ReviewedFull Text
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
Author / Creator:Ostergaard, Elsebet ; Schwartz, Marianne ; Batbayli, Mustafa ; Christensen, Ernst ; Hjalmarson, Ola ; Kollberg, Gittan ; Holme, Elisabeth
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2010-02, Vol.169 (2), p.201-205
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 30
ArticlesPeer ReviewedFull Text
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome
Author / Creator:Ostergaard, Elsebet ; Rodenburg, Richard J ; van den Brand, Mariël ; Thomsen, Lise Lykke ; Duno, Morten ; Batbayli, Mustafa ; Wibrand, Flemming ; Nijtmans, Leo
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-11, Vol.48 (11), p.737-740
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 31
ArticlesPeer ReviewedFull Text
Exclusive neuronal expression of SUCLA2 in the human brain
Author / Creator:Dobolyi, Arpád ; Ostergaard, Elsebet ; Bagó, Attila G. ; Dóczi, Tamás ; Palkovits, Miklós ; Gál, Aniko ; Molnár, Mária J. ; Adam-Vizi, Vera ; Chinopoulos, Christos
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Brain Structure and Function, 2015-01, Vol.220 (1), p.135-151
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 32
ArticlesPeer ReviewedFull Text
The impact of gender, puberty, and pregnancy in patients with POLG disease
Author / Creator:Hikmat, Omar ; Naess, Karin ; Engvall, Martin ; Klingenberg, Claus ; Rasmussen, Magnhild ; Tallaksen, Chantal ; Samsonsen, Christian ; Brodtkorb, Eylert ; Ostergaard, Elsebet ; de Coo, Rene ; Pias-Peleteiro, Leticia ; Isohanni, Pirjo ; Uusimaa, Johanna ; Darin, Niklas ; Rahman, Shamima ; Bindoff, Laurence
Journal title:Annals of clinical and translational neurology, 2020
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 33
ArticlesPeer ReviewedFull Text
Molecular imaging of α7 nicotinic acetylcholine receptors: design and evaluation of the potent radioligand [18F]NS10743
Author / Creator:Deuther-Conrad, Winnie ; Fischer, Steffen ; Hiller, Achim ; Østergaard Nielsen, Elsebet ; Brunicardi Timmermann, Daniel ; Steinbach, Jörg ; Sabri, Osama ; Peters, Dan ; Brust, Peter
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of nuclear medicine and molecular imaging, 2009-05, Vol.36 (5), p.791-800
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 34
ReportsFull Text
Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia
Author / Creator:Strandbech, Olivia Sarah ; Lund, Allan ; Ostergaard, Elsebet
Journal title:JIMD reports, 2021, Vol.59 (1), p.10-15
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 35
ArticlesFull Text
GABA A Receptor Expression in the Forebrain of Ataxic Rolling Nagoya Mice
Author / Creator:Nielsen, Elsebet Østergaard ; Kaja, Simon
Publisher:India
Journal title:Biology and medicine, 2014, Vol.6 (1)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 36
ArticlesPeer ReviewedFull Text
Genotype and phenotype classification of 29 patients affected by Krabbe disease
Author / Creator:Madsen, Anna M. H ; Wibrand, Flemming ; Lund, Allan M ; Ek, Jakob ; Dunø, Morten ; Østergaard, Elsebet
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2019-03, Vol.46 (1), p.35-45
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 37
ArticlesPeer ReviewedFull Text
[18F]NS10743: Characterisation of a selective alpha7 nicotinic acetylcholine receptor (alpha7 nAChR) radioligand in pig brain by PET
Author / Creator:Deuther-Conrad, Winnie ; Fischer, Steffen ; Hiller, Achim ; Funke, Uta ; Nielsen, Elsebet Østergaard ; Timmermann, Daniel Brunicardi ; Steinbach, Jörg ; Peters, Dan ; Brust, Peter
Publisher:Amsterdam: Elsevier Limited
Journal title:NeuroImage (Orlando, Fla.), 2010-08, Vol.52 (S1), p.S49
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 38
ArticlesPeer ReviewedFull Text
Molecular imaging of alpha7 nicotinic acetylcholine receptors: design and evaluation of the potent radioligand [18F]NS10743
Author / Creator:Deuther-Conrad, Winnie ; Fischer, Steffen ; Hiller, Achim ; Nielsen, Elsebet Østergaard ; Timmermann, Daniel Brunicardi ; Steinbach, Jörg ; Sabri, Osama ; Peters, Dan ; Brust, Peter
Publisher:Germany
Journal title:European journal of nuclear medicine and molecular imaging, 2009-05, Vol.36 (5), p.791-800
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 21 to 40 of 31 results

Export record to excel

Export this record

Export record to excel

A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses

Export this record

Export record to excel

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

Export this record

Export record to excel

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

Export this record

Export record to excel

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Export this record

Export record to excel

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

Export this record

Export record to excel

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

Export this record

Export record to excel

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

Export this record

Export record to excel

receptor expression in the forebrain of ataxic rolling Nagoya mice

Export this record

Export record to excel

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

Export this record

Export record to excel

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

Export this record

Export record to excel

Exclusive neuronal expression of SUCLA2 in the human brain

Export this record

Export record to excel

The impact of gender, puberty, and pregnancy in patients with POLG disease

Export this record

Export record to excel

Molecular imaging of α7 nicotinic acetylcholine receptors: design and evaluation of the potent radioligand [18F]NS10743

Export this record

Export record to excel

Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia

Export this record

Export record to excel

GABA A Receptor Expression in the Forebrain of Ataxic Rolling Nagoya Mice

Export this record

Export record to excel

Genotype and phenotype classification of 29 patients affected by Krabbe disease

Export this record

Export record to excel

[18F]NS10743: Characterisation of a selective alpha7 nicotinic acetylcholine receptor (alpha7 nAChR) radioligand in pig brain by PET

Export this record

Export record to excel

Molecular imaging of alpha7 nicotinic acetylcholine receptors: design and evaluation of the potent radioligand [18F]NS10743

Refine your search