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Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing. [electronic resource] by
- Matsukawa, Takashi
- Koshi, Kagari Mano
- Mitsui, Jun
- Bannai, Taro
- Kawabe, Miho
- Ishiura, Hiroyuki
- Terao, Yasuo
- Shimizu, Jun
- Murayama, Keiko
- Yoshimura, Jun
- Doi, Koichiro
- Morishita, Shinichi
- Tsuji, Shoji
- Goto, Jun
Producer: 20170530
In:
Journal of the neurological sciences vol. 372
Availability: No items available.
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Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. [electronic resource] by
- Konkoľová, J
- Petrovič, R
- Chandoga, J
- Repiský, M
- Zelinková, H
- Kršiaková, J
- Kolníková, M
- Kantarská, D
- Šutovský, S
- Böhmer, D
Producer: 20150819
In:
Gene vol. 568
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Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. [electronic resource] by
- Lines, Matthew A
- Jobling, Rebekah
- Brady, Lauren
- Marshall, Christian R
- Scherer, Stephen W
- Rodriguez, Amadeo R
- Lee, Liesly
- Lang, Anthony E
- Mestre, Tiago A
- Wanders, Ronald J A
- Ferdinandusse, Sacha
- Tarnopolsky, Mark A
Producer: 20140505
In:
Neurology vol. 82
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Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. [electronic resource] by
- McMillan, Hugh J
- Worthylake, Thea
- Schwartzentruber, Jeremy
- Gottlieb, Chloe C
- Lawrence, Sarah E
- Mackenzie, Alex
- Beaulieu, Chandree L
- Mooyer, Petra A W
- Wanders, Ronald J A
- Majewski, Jacek
- Bulman, Dennis E
- Geraghty, Michael T
- Ferdinandusse, Sacha
- Boycott, Kym M
Producer: 20130621
In:
Orphanet journal of rare diseases vol. 7
Availability: No items available.
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