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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms. [electronic resource] by
- Cheillan, David
- Joncquel-Chevalier Curt, Marie
- Briand, Gilbert
- Salomons, Gajja S
- Mention-Mulliez, Karine
- Dobbelaere, Dries
- Cuisset, Jean-Marie
- Lion-François, Laurence
- Portes, Vincent Des
- Chabli, Allel
- Valayannopoulos, Vassili
- Benoist, Jean-François
- Pinard, Jean-Marc
- Simard, Gilles
- Douay, Olivier
- Deiva, Kumaran
- Afenjar, Alexandra
- Héron, Delphine
- Rivier, François
- Chabrol, Brigitte
- Prieur, Fabienne
- Cartault, François
- Pitelet, Gaëlle
- Goldenberg, Alice
- Bekri, Soumeya
- Gerard, Marion
- Delorme, Richard
- Tardieu, Marc
- Porchet, Nicole
- Vianey-Saban, Christine
- Vamecq, Joseph
Producer: 20130621
In:
Orphanet journal of rare diseases vol. 7
Availability: No items available.
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129.
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Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness. [electronic resource] by
- Osaka, Hitoshi
- Takagi, Atsushi
- Tsuyusaki, Yu
- Wada, Takahito
- Iai, Mizue
- Yamashita, Sumimasa
- Shimbo, Hiroko
- Saitsu, Hirotomo
- Salomons, Gajja S
- Jakobs, Cornelis
- Aida, Noriko
- Toshihiro, Shinka
- Kuhara, Tomiko
- Matsumoto, Naomichi
Producer: 20120925
In:
Molecular genetics and metabolism vol. 106
Availability: No items available.
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A conserved leucine occupies the empty substrate site of LeuT in the Na(+)-free return state. [electronic resource] by
- Malinauskaite, Lina
- Said, Saida
- Sahin, Caglanur
- Grouleff, Julie
- Shahsavar, Azadeh
- Bjerregaard, Henriette
- Noer, Pernille
- Severinsen, Kasper
- Boesen, Thomas
- Schiøtt, Birgit
- Sinning, Steffen
- Nissen, Poul
Producer: 20180920
In:
Nature communications vol. 7
Availability: No items available.
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