Results
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121.
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Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. [electronic resource] by
- Achouitar, Samira
- Mohamed, Miski
- Gardeitchik, Thatjana
- Wortmann, Saskia B
- Sykut-Cegielska, Jolanta
- Ensenauer, Regina
- de Baulny, Hélène Ogier
- Õunap, Katrin
- Martinelli, Diego
- de Vries, Maaike
- McFarland, Robert
- Kouwenberg, Dorus
- Theodore, Miranda
- Wijburg, Frits
- Grünewald, Stephanie
- Jaeken, Jaak
- Wevers, Ron A
- Nijtmans, Leo
- Elson, Joanna
- Morava, Eva
Producer: 20111202
In:
Journal of inherited metabolic disease vol. 34
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122.
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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man. [electronic resource] by
- Tuschl, Karin
- Clayton, Peter T
- Gospe, Sidney M
- Gulab, Shamshad
- Ibrahim, Shahnaz
- Singhi, Pratibha
- Aulakh, Roosy
- Ribeiro, Reinaldo T
- Barsottini, Orlando G
- Zaki, Maha S
- Del Rosario, Maria Luz
- Dyack, Sarah
- Price, Victoria
- Rideout, Andrea
- Gordon, Kevin
- Wevers, Ron A
- Chong, W K ''Kling''
- Mills, Philippa B
Publication details: American journal of human genetics 08 2016
In:
American journal of human genetics vol. 99
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123.
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Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. [electronic resource] by
- Tuschl, Karin
- Clayton, Peter T
- Gospe, Sidney M
- Gulab, Shamshad
- Ibrahim, Shahnaz
- Singhi, Pratibha
- Aulakh, Roosy
- Ribeiro, Reinaldo T
- Barsottini, Orlando G
- Zaki, Maha S
- Del Rosario, Maria Luz
- Dyack, Sarah
- Price, Victoria
- Rideout, Andrea
- Gordon, Kevin
- Wevers, Ron A
- Chong, W K Kling
- Mills, Philippa B
Producer: 20120713
In:
American journal of human genetics vol. 90
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124.
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Lysosomal storage diseases in non-immune hydrops fetalis pregnancies. [electronic resource] by
- Kooper, Angelique J A
- Janssens, Pim M W
- de Groot, Akosua N J A
- Liebrand-van Sambeek, Maria L F
- van den Berg, Catharina J M G
- Tan-Sindhunata, Gita B
- van den Berg, Paul P
- Bijlsma, Emilia K
- Smits, Arie P T
- Wevers, Ron A
Producer: 20060929
In:
Clinica chimica acta; international journal of clinical chemistry vol. 371
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125.
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Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. [electronic resource] by
- Timal, Sharita
- Hoischen, Alexander
- Lehle, Ludwig
- Adamowicz, Maciej
- Huijben, Karin
- Sykut-Cegielska, Jolanta
- Paprocka, Justyna
- Jamroz, Ewa
- van Spronsen, Francjan J
- Körner, Christian
- Gilissen, Christian
- Rodenburg, Richard J
- Eidhof, Ilse
- Van den Heuvel, Lambert
- Thiel, Christian
- Wevers, Ron A
- Morava, Eva
- Veltman, Joris
- Lefeber, Dirk J
Producer: 20130314
In:
Human molecular genetics vol. 21
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126.
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Systems medicine, personalized health and therapy. [electronic resource] by
- Siest, Gérard
- Auffray, Charles
- Taniguchi, Naoyuki
- Ingelman-Sundberg, Magnus
- Murray, Helena
- Visvikis-Siest, Sophie
- Ansari, Marc
- Marc, Janja
- Jacobs, Peter
- Meyer, Urs
- Van Schaik, Ron H N
- Müller, Mathias M
- Wevers, Ron A
- Simmaco, Maurizio
- Kussmann, Martin
- Manolopoulos, Vangelis G
- Alizadeh, Behrooz Z
- Beastall, Graham
- Németh, György
Producer: 20160729
In:
Pharmacogenomics vol. 16
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127.
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Increased mitochondrial activity in a novel IDH1-R132H mutant human oligodendroglioma xenograft model: in situ detection of 2-HG and α-KG. [electronic resource] by
- Navis, Anna C
- Niclou, Simone P
- Fack, Fred
- Stieber, Daniel
- van Lith, Sanne
- Verrijp, Kiek
- Wright, Alan
- Stauber, Jonathan
- Tops, Bastiaan
- Otte-Holler, Irene
- Wevers, Ron A
- van Rooij, Arno
- Pusch, Stefan
- von Deimling, Andreas
- Tigchelaar, Wikky
- van Noorden, Cornelis J F
- Wesseling, Pieter
- Leenders, William P J
Producer: 20150331
In:
Acta neuropathologica communications vol. 1
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128.
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SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. [electronic resource] by
- Carrozzo, Rosalba
- Dionisi-Vici, Carlo
- Steuerwald, Ulrike
- Lucioli, Simona
- Deodato, Federica
- Di Giandomenico, Sivia
- Bertini, Enrico
- Franke, Barbara
- Kluijtmans, Leo A J
- Meschini, Maria Chiara
- Rizzo, Cristiano
- Piemonte, Fiorella
- Rodenburg, Richard
- Santer, René
- Santorelli, Filippo M
- van Rooij, Arno
- Vermunt-de Koning, Diana
- Morava, Eva
- Wevers, Ron A
Producer: 20070416
In:
Brain : a journal of neurology vol. 130
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129.
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Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma. [electronic resource] by
- van Lith, Sanne A M
- Navis, Anna C
- Lenting, Krissie
- Verrijp, Kiek
- Schepens, Jan T G
- Hendriks, Wiljan J A J
- Schubert, Nil A
- Venselaar, Hanka
- Wevers, Ron A
- van Rooij, Arno
- Wesseling, Pieter
- Molenaar, Remco J
- van Noorden, Cornelis J F
- Pusch, Stefan
- Tops, Bastiaan
- Leenders, William P J
Producer: 20180416
In:
Scientific reports vol. 6
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130.
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CAD mutations and uridine-responsive epileptic encephalopathy. [electronic resource] by
- Koch, Johannes
- Mayr, Johannes A
- Alhaddad, Bader
- Rauscher, Christian
- Bierau, Jörgen
- Kovacs-Nagy, Reka
- Coene, Karlien L M
- Bader, Ingrid
- Holzhacker, Monika
- Prokisch, Holger
- Venselaar, Hanka
- Wevers, Ron A
- Distelmaier, Felix
- Polster, Tilman
- Leiz, Steffen
- Betzler, Cornelia
- Strom, Tim M
- Sperl, Wolfgang
- Meitinger, Thomas
- Wortmann, Saskia B
- Haack, Tobias B
Producer: 20170512
In:
Brain : a journal of neurology vol. 140
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131.
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Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. [electronic resource] by
- Wortmann, Saskia B
- Chen, Margaret A
- Colombo, Roberto
- Pontoglio, Alessandro
- Alhaddad, Bader
- Botto, Lorenzo D
- Yuzyuk, Tatiana
- Coughlin, Curtis R
- Descartes, Maria
- Grűnewald, Stephanie
- Maranda, Bruno
- Mills, Philippa B
- Pitt, James
- Potente, Catherine
- Rodenburg, Richard
- Kluijtmans, Leo A J
- Sampath, Srirangan
- Pai, Emil F
- Wevers, Ron A
- Tiller, George E
Producer: 20170824
In:
Journal of inherited metabolic disease vol. 40
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132.
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Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma. [electronic resource] by
- Rao, Jyotsna U
- Engelke, Udo F H
- Rodenburg, Richard J T
- Wevers, Ron A
- Pacak, Karel
- Eisenhofer, Graeme
- Qin, Nan
- Kusters, Benno
- Goudswaard, Angelina G
- Lenders, Jacques W M
- Hermus, Ad R M M
- Mensenkamp, Arjen R
- Kunst, Henricus P M
- Sweep, Fred C G J
- Timmers, Henri J L M
Producer: 20140205
In:
Clinical cancer research : an official journal of the American Association for Cancer Research vol. 19
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133.
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Arts syndrome is caused by loss-of-function mutations in PRPS1. [electronic resource] by
- de Brouwer, Arjan P M
- Williams, Kelly L
- Duley, John A
- van Kuilenburg, André B P
- Nabuurs, Sander B
- Egmont-Petersen, Michael
- Lugtenberg, Dorien
- Zoetekouw, Lida
- Banning, Martijn J G
- Roeffen, Melissa
- Hamel, Ben C J
- Weaving, Linda
- Ouvrier, Robert A
- Donald, Jennifer A
- Wevers, Ron A
- Christodoulou, John
- van Bokhoven, Hans
Producer: 20071004
In:
American journal of human genetics vol. 81
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134.
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Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. [electronic resource] by
- Morava, Eva
- Kühnisch, Jirko
- Drijvers, Jefte M
- Robben, Joris H
- Cremers, Cor
- van Setten, Petra
- Branten, Amanda
- Stumpp, Sabine
- de Jong, Alphons
- Voesenek, Krysta
- Vermeer, Sascha
- Heister, Angelien
- Claahsen-van der Grinten, Hedi L
- O'Neill, Charles W
- Willemsen, Michèl A
- Lefeber, Dirk
- Deen, Peter M T
- Kornak, Uwe
- Kremer, Hannie
- Wevers, Ron A
Producer: 20110204
In:
The Journal of clinical endocrinology and metabolism vol. 96
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135.
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beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. [electronic resource] by
- van Kuilenburg, André B P
- Meinsma, Rutger
- Beke, Eva
- Assmann, Birgit
- Ribes, Antonia
- Lorente, Isabel
- Busch, Rebekka
- Mayatepek, Ertan
- Abeling, Nico G G M
- van Cruchten, Arno
- Stroomer, Alida E M
- van Lenthe, Henk
- Zoetekouw, Lida
- Kulik, Willem
- Hoffmann, Georg F
- Voit, Thomas
- Wevers, Ron A
- Rutsch, Frank
- van Gennip, Albert H
Producer: 20060112
In:
Human molecular genetics vol. 13
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136.
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Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. [electronic resource] by
- Banka, Siddharth
- Blom, Henk J
- Walter, John
- Aziz, Majid
- Urquhart, Jill
- Clouthier, Christopher M
- Rice, Gillian I
- de Brouwer, Arjan P M
- Hilton, Emma
- Vassallo, Grace
- Will, Andrew
- Smith, Desirée E C
- Smulders, Yvo M
- Wevers, Ron A
- Steinfeld, Robert
- Heales, Simon
- Crow, Yanick J
- Pelletier, Joelle N
- Jones, Simon
- Newman, William G
Producer: 20110329
In:
American journal of human genetics vol. 88
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137.
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Correlation between in vivo 18F-FDG PET and immunohistochemical markers of glucose uptake and metabolism in pheochromocytoma and paraganglioma. [electronic resource] by
- van Berkel, Anouk
- Rao, Jyotsna U
- Kusters, Benno
- Demir, Tuna
- Visser, Eric
- Mensenkamp, Arjen R
- van der Laak, Jeroen A W M
- Oosterwijk, Egbert
- Lenders, Jacques W M
- Sweep, Fred C G J
- Wevers, Ron A
- Hermus, Ad R
- Langenhuijsen, Johan F
- Kunst, Dirk P M
- Pacak, Karel
- Gotthardt, Martin
- Timmers, Henri J L M
Producer: 20150713
In:
Journal of nuclear medicine : official publication, Society of Nuclear Medicine vol. 55
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138.
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Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. [electronic resource] by
- Lefeber, Dirk J
- Schönberger, Johannes
- Morava, Eva
- Guillard, Mailys
- Huyben, Karin M
- Verrijp, Kiek
- Grafakou, Olga
- Evangeliou, Athanasios
- Preijers, Frank W
- Manta, Panagiota
- Yildiz, Jef
- Grünewald, Stephanie
- Spilioti, Martha
- van den Elzen, Christa
- Klein, Dominique
- Hess, Daniel
- Ashida, Hisashi
- Hofsteenge, Jan
- Maeda, Yusuke
- van den Heuvel, Lambert
- Lammens, Martin
- Lehle, Ludwig
- Wevers, Ron A
Producer: 20090715
In:
American journal of human genetics vol. 85
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139.
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3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. [electronic resource] by
- Wortmann, Saskia B
- Kluijtmans, Leo A J
- Rodenburg, Richard J
- Sass, Jörn Oliver
- Nouws, Jessica
- van Kaauwen, Edwin P
- Kleefstra, Tjitske
- Tranebjaerg, Lisbeth
- de Vries, Maaike C
- Isohanni, Pirjo
- Walter, Katharina
- Alkuraya, Fowzan S
- Smuts, Izelle
- Reinecke, Carolus J
- van der Westhuizen, Francois H
- Thorburn, David
- Smeitink, Jan A M
- Morava, Eva
- Wevers, Ron A
Producer: 20140715
In:
Journal of inherited metabolic disease vol. 36
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140.
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Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. [electronic resource] by
- Fischer, Björn
- Dimopoulou, Aikaterini
- Egerer, Johannes
- Gardeitchik, Thatjana
- Kidd, Alexa
- Jost, Dominik
- Kayserili, Hülya
- Alanay, Yasemin
- Tantcheva-Poor, Iliana
- Mangold, Elisabeth
- Daumer-Haas, Cornelia
- Phadke, Shubha
- Peirano, Reto I
- Heusel, Julia
- Desphande, Charu
- Gupta, Neerja
- Nanda, Arti
- Felix, Emma
- Berry-Kravis, Elisabeth
- Kabra, Madhulika
- Wevers, Ron A
- van Maldergem, Lionel
- Mundlos, Stefan
- Morava, Eva
- Kornak, Uwe
Producer: 20130108
In:
Human genetics vol. 131
Availability: No items available.
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