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Titlebook: JIMD Reports, Volume 34; Eva Morava,Matthias Baumgartner,Verena Peters Book 2017 Society for the Study of Inborn Errors of Metabolism (SSI

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41#
發(fā)表于 2025-3-28 15:51:06 | 只看該作者
COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hyp7208 c.49delC p.(Arg17Aspfs*57). Mutations in . have previously been shown to alter ribosome assembly and cause abnormal function of multiple respiratory chain complexes. Our case adds to the evolving knowledge of disorders of mitochondrial translation.
42#
發(fā)表于 2025-3-28 22:26:39 | 只看該作者
2192-8304 disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.978-3-662-55585-9978-3-662-55586-6Series ISSN 2192-8304 Series E-ISSN 2192-8312
43#
發(fā)表于 2025-3-29 01:36:14 | 只看該作者
44#
發(fā)表于 2025-3-29 06:39:38 | 只看該作者
45#
發(fā)表于 2025-3-29 08:53:40 | 只看該作者
46#
發(fā)表于 2025-3-29 13:32:07 | 只看該作者
Katarzyna A. Ellsworth,Laura M. Pollard,Sara Cathey,Tim Woodve of the functional or adaptive differences between them. Essentially typological, its method goes back to the ideas of the German . and French transcendental schools of morphology (Russell, 1916), and it addresses the ordered diversity of forms from the perspective of internal organization.
47#
發(fā)表于 2025-3-29 15:47:39 | 只看該作者
48#
發(fā)表于 2025-3-29 22:36:06 | 只看該作者
C. Bursle,D. Brown,J. Cardinal,F. Connor,S. Calvert,D. Comanset, unpublished). Moreover, annual as well as nonannual species of killifish have evolved in both regions (Simpson, 1979). Whether these similarities are the result of common ancestry from a tropical Gondwanian stock or of striking evolutionary convergence is nonetheless questionable. What is certa
49#
發(fā)表于 2025-3-30 02:56:32 | 只看該作者
Ashwini Maratha,Hugh-Owen Colhoun,Ina Knerr,Karen P. Coss,Peter Doran,Eileen P. TreacyGould and Eldredge, 1977; Kimura, 1983). Second, most phenotypic characters comprise many levels of organization from the molecular to the behavioral and the population level, and the rate of change is nonuniform across these levels of organization. Some attributes of the phenotype, such as color an
50#
發(fā)表于 2025-3-30 05:06:59 | 只看該作者
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