Results
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21.
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Gastrointestinal pathology in a mouse model of mucopolysaccharidosis type IIIA. [electronic resource] by
- Roberts, Ainslie L K Derrick
- Howarth, Gordon S
- Liaw, Wan Chin
- Moretta, Simon
- Kritas, Stamatiki
- Lymn, Kerry A
- Yazbeck, Roger
- Tran, Cuong
- Fletcher, Janice M
- Butler, Ross N
- Byers, Sharon
Producer: 20090316
In:
Journal of cellular physiology vol. 219
Availability: No items available.
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22.
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De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. [electronic resource] by
- McFarland, Robert
- Kirby, Denise M
- Fowler, Kerry J
- Ohtake, Akira
- Ryan, Michael T
- Amor, David J
- Fletcher, Janice M
- Dixon, Joanne W
- Collins, Felicity A
- Turnbull, Douglass M
- Taylor, Robert W
- Thorburn, David R
Producer: 20040312
In:
Annals of neurology vol. 55
Availability: No items available.
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23.
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Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. [electronic resource] by
- Byrne, Alicia B
- Arts, Peer
- Polyak, Steven W
- Feng, Jinghua
- Schreiber, Andreas W
- Kassahn, Karin S
- Hahn, Christopher N
- Mordaunt, Dylan A
- Fletcher, Janice M
- Lipsett, Jillian
- Bratkovic, Drago
- Booker, Grant W
- Smith, Nicholas J
- Scott, Hamish S
Publication details: NPJ genomic medicine 2019
In:
NPJ genomic medicine vol. 4
Availability: No items available.
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24.
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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. [electronic resource] by
- Calvo, Sarah E
- Compton, Alison G
- Hershman, Steven G
- Lim, Sze Chern
- Lieber, Daniel S
- Tucker, Elena J
- Laskowski, Adrienne
- Garone, Caterina
- Liu, Shangtao
- Jaffe, David B
- Christodoulou, John
- Fletcher, Janice M
- Bruno, Damien L
- Goldblatt, Jack
- Dimauro, Salvatore
- Thorburn, David R
- Mootha, Vamsi K
Producer: 20120913
In:
Science translational medicine vol. 4
Availability: No items available.
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25.
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Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage. [electronic resource] by
- Linthorst, Gabor E
- Burlina, Alessandro P
- Cecchi, Franco
- Cox, Timothy M
- Fletcher, Janice M
- Feldt-Rasmussen, Ulla
- Giugliani, Roberto
- Hollak, Carla E M
- Houge, Gunnar
- Hughes, Derralynn
- Kantola, Iikka
- Lachmann, Robin
- Lopez, Monica
- Ortiz, Alberto
- Parini, Rossella
- Rivera, Alberto
- Rolfs, Arndt
- Ramaswami, Uma
- Svarstad, Einar
- Tondel, Camilla
- Tylki-Szymanska, Anna
- Vujkovac, Bojan
- Waldek, Steven
- West, Michael
- Weidemann, F
- Mehta, Atul
Producer: 20130225
In:
JIMD reports vol. 8
Availability: No items available.
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26.
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Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. [electronic resource] by
- Stadler, Sonja C
- Polanetz, Roman
- Maier, Esther M
- Heidenreich, Sylvia C
- Niederer, Birgit
- Mayerhofer, Peter U
- Lagler, Florian
- Koch, Hans-Georg
- Santer, René
- Fletcher, Janice M
- Ranieri, Enzo
- Das, Anibh M
- Spiekerkötter, Ute
- Schwab, Karl O
- Pötzsch, Simone
- Marquardt, Iris
- Hennermann, Julia B
- Knerr, Ina
- Mercimek-Mahmutoglu, Saadet
- Kohlschmidt, Nicolai
- Liebl, Bernhard
- Fingerhut, Ralph
- Olgemöller, Bernhard
- Muntau, Ania C
- Roscher, Adelbert A
- Röschinger, Wulf
Producer: 20061016
In:
Human mutation vol. 27
Availability: No items available.
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