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Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. [electronic resource] by
- Alston, Charlotte L
- Davison, James E
- Meloni, Francesca
- van der Westhuizen, Francois H
- He, Langping
- Hornig-Do, Hue-Tran
- Peet, Andrew C
- Gissen, Paul
- Goffrini, Paola
- Ferrero, Ileana
- Wassmer, Evangeline
- McFarland, Robert
- Taylor, Robert W
Producer: 20130509
In:
Journal of medical genetics vol. 49
Availability: No items available.
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9.
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Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. [electronic resource] by
- Wortmann, Saskia B
- Meunier, Brigitte
- Mestek-Boukhibar, Lamia
- van den Broek, Florence
- Maldonado, Elaina M
- Clement, Emma
- Weghuber, Daniel
- Spenger, Johannes
- Jaros, Zdenek
- Taha, Fatma
- Yue, Wyatt W
- Heales, Simon J
- Davison, James E
- Mayr, Johannes A
- Rahman, Shamima
Producer: 20200417
In:
American journal of human genetics vol. 106
Availability: No items available.
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Expanding the phenotype in argininosuccinic aciduria: need for new therapies. [electronic resource] by
- Baruteau, Julien
- Jameson, Elisabeth
- Morris, Andrew A
- Chakrapani, Anupam
- Santra, Saikat
- Vijay, Suresh
- Kocadag, Huriye
- Beesley, Clare E
- Grunewald, Stephanie
- Murphy, Elaine
- Cleary, Maureen
- Mundy, Helen
- Abulhoul, Lara
- Broomfield, Alexander
- Lachmann, Robin
- Rahman, Yusof
- Robinson, Peter H
- MacPherson, Lesley
- Foster, Katharine
- Chong, W Kling
- Ridout, Deborah A
- Bounford, Kirsten McKay
- Waddington, Simon N
- Mills, Philippa B
- Gissen, Paul
- Davison, James E
Producer: 20170824
In:
Journal of inherited metabolic disease vol. 40
Availability: No items available.
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