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Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype. [electronic resource] by
- Yamashita, Toru
- Mitsui, Jun
- Shimozawa, Nobuyuki
- Takashima, Shigeo
- Umemura, Hiroshi
- Sato, Kota
- Takemoto, Mami
- Hishikawa, Nozomi
- Ohta, Yasuyuki
- Matsukawa, Takashi
- Ishiura, Hiroyuki
- Yoshimura, Jun
- Doi, Koichiro
- Morishita, Shinichi
- Tsuji, Shoji
- Abe, Koji
Producer: 20170705
In:
Journal of the neurological sciences vol. 375
Availability: No items available.
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290.
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PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease. [electronic resource] by
- Schlüter, Agatha
- Fourcade, Stéphane
- Domènech-Estévez, Enric
- Gabaldón, Toni
- Huerta-Cepas, Jaime
- Berthommier, Guillaume
- Ripp, Raymond
- Wanders, Ronald J A
- Poch, Olivier
- Pujol, Aurora
Producer: 20070316
In:
Nucleic acids research vol. 35
Availability: No items available.
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293.
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A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. [electronic resource] by
- Wangler, Michael F
- Hubert, Leroy
- Donti, Taraka R
- Ventura, Meredith J
- Miller, Marcus J
- Braverman, Nancy
- Gawron, Kelly
- Bose, Mousumi
- Moser, Ann B
- Jones, Richard O
- Rizzo, William B
- Sutton, V Reid
- Sun, Qin
- Kennedy, Adam D
- Elsea, Sarah H
Producer: 20190226
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
Availability: No items available.
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