作者: 歸功于 時間: 2025-3-21 23:31 作者: Esophagus 時間: 2025-3-22 03:48 作者: INCUR 時間: 2025-3-22 06:50 作者: Limerick 時間: 2025-3-22 08:44
JIMD Reports, Volume 14978-3-662-43748-3Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: mendacity 時間: 2025-3-22 14:27
Johannes Zschocke,K. Michael Gibson,Verena PetersUnique collection of case and research reports on rare metabolic disorders.Contains unusual or previously unrecorded features relevant to metabolic disorders.All contributions rigorously peer-reviewed作者: 情愛 時間: 2025-3-22 20:26
JIMD Reportshttp://image.papertrans.cn/j/image/500053.jpg作者: 阻擋 時間: 2025-3-22 23:27
Book 2014JIMD Reports publishes case and short research reports in the area of inherited metabolic 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.作者: 縮減了 時間: 2025-3-23 05:01
https://doi.org/10.1007/978-3-662-43748-3endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic disease作者: 出處 時間: 2025-3-23 05:37 作者: Aspiration 時間: 2025-3-23 11:45 作者: CLEFT 時間: 2025-3-23 15:44 作者: Epithelium 時間: 2025-3-23 21:38 作者: Palpate 時間: 2025-3-24 01:05
G J G Ruijter,D A Goudriaan,A M Boer,J Van den Bosch,A T Van der Ploeg,L H Elvers,S S Weinreich,A J and then implementation of the . in four dimensions, i.e., social, pedagogical, technological, and content. All these enforce integrative aspects of STEM-driven CS education and contribute to the evolution of pedagogical aspects we discuss in Part I of this book. The personalisation of STEM-driven C作者: Cabinet 時間: 2025-3-24 04:20
Mariella Simon,Richard C. Chang,Deeksha S. Bali,Lee-Jun Wong,Ying Peng,Jose E. Abdenurrchitecture of the proposed system, (ii) generative capabilities of its constituents (e.g., Metadata Generator, Query Generator, LO List Generator), and (iii) proposed methodology. The basis of this methodology is a deep separation of concepts at the component level (i.e., content items) and the sub作者: Synapse 時間: 2025-3-24 09:30
Divair Doneda,Filippo P. Vairo,André L. Lopes,álvaro Reischak-Oliveira,Pedro Schestatsky,Marino M. Brelated to the availability of good quality ontologies threaten to limit the deployment of ontology-based information systems. This has resulted in ontology engineers increasingly looking to the philosophy community for possible solutions, and in particular as a source of relevant expertise in the o作者: 有機體 時間: 2025-3-24 13:00 作者: SPALL 時間: 2025-3-24 15:27 作者: 影響深遠 時間: 2025-3-24 20:40
Marni J. Falk,Dong Li,Xiaowu Gai,Elizabeth McCormick,Emily Place,Francesco M. Lasorsa,Frederick G. Opossible mainly with the help of the CDF silicon vertex tracker, providing the b quark information. In the beginning of the 21st century the new LHC experiments are beginning to take 2 shape. CMS with its 206m of silicon area is perfectly suited to cope with the high luminosity environment. Even lar作者: essential-fats 時間: 2025-3-25 02:59 作者: 預(yù)感 時間: 2025-3-25 06:23 作者: Fecundity 時間: 2025-3-25 10:05 作者: 解決 時間: 2025-3-25 14:20 作者: Agility 時間: 2025-3-25 19:47 作者: Hearten 時間: 2025-3-25 20:13 作者: CHAFE 時間: 2025-3-26 03:45 作者: 多余 時間: 2025-3-26 07:32
Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in tdifferent genotypes, all homozygous except one. The analysis highlighted c.962T>C (p.L321P) as the most frequently detected mutation in the group of patients examined and the c.1072G>A (p.V358M) as the most frequent polymorphism. All parents and 50% of the healthy siblings analyzed carried in a hete作者: 學(xué)術(shù)討論會 時間: 2025-3-26 10:50
Danon Disease Due to a Novel , Microduplication,r, . sequencing was normal. Deletion/duplication testing by multiplex ligation-dependent probe amplification (MLPA) assay revealed a 1.5kb microduplication containing . exons 4 and 5. RT-PCR studies were consistent with the inclusion of these two duplicated exons in the final spliced transcript, res作者: 種子 時間: 2025-3-26 12:40 作者: Perceive 時間: 2025-3-26 19:10 作者: buoyant 時間: 2025-3-26 21:06 作者: 祖?zhèn)髫敭a(chǎn) 時間: 2025-3-27 02:39
Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type IIIe 7.5) was, respectively, 47%, 72%, and 15% higher than that estimated by the Harris–Benedict equation. Patients with a more severe phenotype had more marked hypermetabolism. Patients 1 and 2 had BMI-for-age z scores of ?1.09 and ?1.39, respectively, and height-for-age z scores of ?4.27 and ?3.02, r作者: Popcorn 時間: 2025-3-27 06:41
Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Letations of previously described patients with . mutations are heterogeneous and can be from childhood to adulthood. In summary, . mutations have been shown to affect CIII complex function, which results in a heterogeneous clinical phenotype including Leigh syndrome.作者: monologue 時間: 2025-3-27 09:57
Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Itnd .. Patients with GSD Ib had a lower Z-score than GSD Ia patients for .. Male patients showed better Z-scores in ., ., and . when compared to females. . Z-score was lower in nephropathic patients... QoL can be impaired in adult patients with GSD I. The results of this study show that patients with作者: GRAIN 時間: 2025-3-27 16:41
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Coant of BH. responsiveness, patients with the same genotype may also show disparate responses to this treatment. A clinical and biochemical evaluation should be undertaken to determine the effectiveness of PKU treatment by supplementation of BH..作者: Tortuous 時間: 2025-3-27 21:40
Extraosseous Extension Caused by Epidural Hematoma in Gaucher Disease Mimicking Malignant Bone Tumoneously harvesting tissue specimens. Histopathological analysis showed aggregates of Gaucher cells in the right femur and hematoma in the sacrum. Epidural hematoma in Gaucher disease, usually attributed to thrombocytopenia, is a rare manifestation of skeletal complication, mimicking malignant proces作者: originality 時間: 2025-3-27 23:36
,Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years’ Experience,the common autosomal dominant R264H mutation, one was found to be a compound heterozygote for two novel pathogenic mutations, and three were found to be heterozygotes for previously reported mutations shown to cause autosomal recessive MATI/III deficiency when present in homozygous or a compound het作者: Slit-Lamp 時間: 2025-3-28 03:02
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced ,-Acetylaspartate,ession and enzyme activity... A novel . homozygous missense mutation, c.1058G>A; p.Arg353Gln, segregated with disease in this kindred. . encodes the neuronal aspartate-glutamate carrier 1 (AGC1) protein, an essential component of the neuronal malate/aspartate shuttle that transfers NADH and H. reduc作者: 煩躁的女人 時間: 2025-3-28 08:09 作者: 雪上輕舟飛過 時間: 2025-3-28 11:05 作者: misanthrope 時間: 2025-3-28 17:50
Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced ,-Acetylas作者: 適宜 時間: 2025-3-28 22:42 作者: 思考而得 時間: 2025-3-29 00:51 作者: arbovirus 時間: 2025-3-29 06:14 作者: Provenance 時間: 2025-3-29 09:59 作者: Noctambulant 時間: 2025-3-29 12:49 作者: otic-capsule 時間: 2025-3-29 19:26 作者: Abbreviate 時間: 2025-3-29 20:31
Divair Doneda,Filippo P. Vairo,André L. Lopes,álvaro Reischak-Oliveira,Pedro Schestatsky,Marino M. Be what entities and types of entities actually exist and thus to study the structure of the world. In contrast, in computer science an ontology is an engineering artifact, usually a “conceptual model” of (some aspect of) the world, typically formalised as a logical theory. Formalising an ontology us作者: 苦澀 時間: 2025-3-30 00:16
P. S. Atwalnguished: (1) (normal) evolution; (2) (revolutionary) replacement; (3) embedding (of one conceptual system into another); and (4) (gradual) crystallization of a conceptual framework. In the literature on diachronic philosophy of science, the last type has been unduly neglected in spite of its great 作者: 甜瓜 時間: 2025-3-30 06:01
Annalisa Sechi,Laura Deroma,Sabrina Paci,Annunziata Lapolla,Francesca Carubbi,Alberto Burlina,Miriamlostome groups.Analyses main directions in bryozoans sexual Three major aspects that distinguish this book are that (1) it contains the most detailed analysis of the sexual reproduction (oogenesis, fertilization and embryonic incubation) in a particular phylum of the aquatic invertebrates (Bryozoa) 作者: 喚醒 時間: 2025-3-30 08:44 作者: 殺蟲劑 時間: 2025-3-30 15:14 作者: myocardium 時間: 2025-3-30 17:43 作者: 審問,審訊 時間: 2025-3-30 21:26
Marni J. Falk,Dong Li,Xiaowu Gai,Elizabeth McCormick,Emily Place,Francesco M. Lasorsa,Frederick G. O California in 1983 “To proceed with high energy particle physics, one has to tag the avour of the quarks!” This statement re ects the need for a highly precise tracking device, being able to resolve secondary and tertiary vertices within high-particle densities. Since the d- tance between the prima作者: frugal 時間: 2025-3-31 01:01
