標(biāo)題: Titlebook: JIMD Reports, Volume 20; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men [打印本頁] 作者: 有靈感 時間: 2025-3-21 17:47
書目名稱JIMD Reports, Volume 20影響因子(影響力)
作者: Classify 時間: 2025-3-21 21:50 作者: 入會 時間: 2025-3-22 03:58 作者: archenemy 時間: 2025-3-22 07:08 作者: 魔鬼在游行 時間: 2025-3-22 09:29 作者: 刺激 時間: 2025-3-22 13:04
Characterization of Variegate Porphyria Mutations Using a Minigene Approach,pping; therefore, the abnormal mRNAs are most likely degraded by a mechanism such as nonsense-mediated decay. In conclusion, these mutations are responsible for the disease because they alter the normal splicing pathway, thus providing a functional explanation for the appearance of disease and highl作者: 誘使 時間: 2025-3-22 17:13
Homozygous Truncating Intragenic Duplication in , Responsible for Rare Autosomal Recessive Nonsyndrwed normal N-glycan synthesis and transfer. We present a review of the 19 patients previously described in the literature and report on a sixth consanguineous family including two affected sibs, with intellectual disability, unspecific dysmorphic features, and no additional malformations identified 作者: 沉著 時間: 2025-3-23 00:08 作者: convulsion 時間: 2025-3-23 02:46 作者: DIS 時間: 2025-3-23 09:19
Psychological Health in Adults with Morquio Syndrome,ymptoms. Overall, subjects scored below the US mean only in physical health QOL (.?
作者: 燈泡 時間: 2025-3-23 09:55
A Novel Homozygous , Mutation in Two Italian Siblings and a Review of Literature,anticodon of the cognate mt-tRNA...Our study confirms that MLASA must be considered in patients with congenital sideroblastic anemia and underlines the importance of early diagnosis and supportive therapy in order to prevent severe complications. Clinical severity is variable among .-reported patien作者: CON 時間: 2025-3-23 15:49
Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine DeficiencyD 20.4) to 6.3 (SD 1.7) μmol/L within 96?h (.?
作者: 輕推 時間: 2025-3-23 20:15 作者: Outmoded 時間: 2025-3-24 00:11
human population diversity as well as the dynamics of the recombination process. Differences in the recombination rates are found not only along the genome but also between populations and individuals. When LD has been applied to reconstructing the demographic history of modern human populations, th作者: OVER 時間: 2025-3-24 06:22 作者: Forehead-Lift 時間: 2025-3-24 06:57
Isidro Vitoria,Elena Martín-Hernández,Luis Pe?a-Quintana,María Bueno,Pilar Quijada-Fraile,Jaime Dalm importance in the present gene pool of the Paleolithic and Neolithic substrates, both having entered Europe from the Southeast, has been a matter of debate, with an important increase of evidence favoring a strong impact of the Neolithic. Several open questions remain to be addressed, including the作者: 落葉劑 時間: 2025-3-24 13:11
Josep Oriola,Francisca Moreno,Angel Gutiérrez-Nogués,Sara León,Carmen-María García-Herrero,Olivier Vmitochondrial DNA has revealed sex-specific migrations, particularly in the Colonial period. Since surnames are also patrilineally inherited in many populations, the analysis of Y chromosome variation within surnames has shed light on the dynamics of surnames in populations, but has also contributed作者: 藕床生厭倦 時間: 2025-3-24 15:58 作者: 涂掉 時間: 2025-3-24 22:33 作者: 食草 時間: 2025-3-25 00:44
Barbara Xoana Granata,Marco Baralle,Laura De Conti,Victoria Parera,Maria Victoria Rossettinessed the dissolution of the European Payments Union and the agony of the Bretton Woods Charter. If only Europe could have integrated the monetary regime within the framework of the Treaty of Rome based on Professor Triffin’s proposals to transform the European Payments Union (EPU); if only Europe 作者: 案發(fā)地點(diǎn) 時間: 2025-3-25 06:27 作者: OGLE 時間: 2025-3-25 08:56
Eun-Young Choi,Keyur Patel,Marie Reine Haddad,Ling Yi,Courtney Holmes,David S. Goldstein,Amalia Dutrnessed the dissolution of the European Payments Union and the agony of the Bretton Woods Charter. If only Europe could have integrated the monetary regime within the framework of the Treaty of Rome based on Professor Triffin’s proposals to transform the European Payments Union (EPU); if only Europe 作者: Aspiration 時間: 2025-3-25 11:54 作者: CBC471 時間: 2025-3-25 18:37 作者: 壓碎 時間: 2025-3-25 22:45
Hannah Y. Coletti,Mieke Aldenhoven,Karina Yelin,Michele D. Poe,Joanne Kurtzberg,Maria L. Escolar作者: cyanosis 時間: 2025-3-26 00:49 作者: 受辱 時間: 2025-3-26 08:06
J. Rasmussen,J. A. Thomsen,J. H. Olesen,T. M. Lund,M. Mohr,J. Clementsen,O. W. Nielsen,A. M. Lund作者: 潛移默化 時間: 2025-3-26 08:31
Ana Marc?o,María L. Couce,Célia Nogueira,Helena Fonseca,Filipa Ferreira,José M. Fraga,M. Dolores Bóv作者: AGOG 時間: 2025-3-26 14:16
Johannes Zschocke,Matthias Baumgartner,Verena PeteUnique 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: Figate 時間: 2025-3-26 19:39
JIMD Reportshttp://image.papertrans.cn/j/image/500058.jpg作者: 歸功于 時間: 2025-3-26 23:26
Book 2015JIMD 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: V洗浴 時間: 2025-3-27 03:52
https://doi.org/10.1007/978-3-662-46700-8Mendelian disorder; endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic 作者: cocoon 時間: 2025-3-27 06:34 作者: 性行為放縱者 時間: 2025-3-27 12:12
JIMD Reports, Volume 20978-3-662-46700-8Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: Modicum 時間: 2025-3-27 15:26 作者: 流眼淚 時間: 2025-3-27 21:46 作者: grovel 時間: 2025-3-27 23:46
Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of ts. Despite early diagnosis and treatment, the disease still has a high mortality rate...: Clinical symptoms, long-term follow-up, and biochemical and molecular results of four cases are described and compared with the reviewed literature data of 55 cases...: Two cases with neonatal onset, carrying i作者: 一夫一妻制 時間: 2025-3-28 04:52 作者: 抱怨 時間: 2025-3-28 06:40 作者: laxative 時間: 2025-3-28 13:58 作者: Albumin 時間: 2025-3-28 15:50
Characterization of Variegate Porphyria Mutations Using a Minigene Approach,te porphyria at the CIPYP (Centro de Investigaciones sobre Porfirinas y Porfirias). Sequencing of the protoporphyrinogen oxidase gene, the gene altered in this type of porphyria, revealed three previously undescribed mutations: c.338+3insT, c.807G>A, and c.808-1G>C. As these mutations do not affect 作者: 種植,培養(yǎng) 時間: 2025-3-28 20:10
Homozygous Truncating Intragenic Duplication in , Responsible for Rare Autosomal Recessive Nonsyndrseveral modes of inheritance. Nonsyndromic autosomal recessive ID (NS-ARID) appears extremely heterogeneous with numerous genes identified to date, including inborn errors of metabolism. The . gene encodes a subunit of the endoplasmic reticulum (ER)-bound oligosaccharyltransferase complex, which med作者: Harness 時間: 2025-3-29 02:16
,Tandem Duplication of Exons 1–7 Neither Impairs , Expression Nor Causes a Menkes Disease Phenotype, exons 1–7 discovered in the context of a challenging prenatal diagnostic situation. All other reported . duplications (.?=?24) involved intragenic tandem duplications, predicted to disrupt the normal translational reading frame and produce nonfunctional ATP7A proteins. In contrast, the exon 1–7 dup作者: GULF 時間: 2025-3-29 07:01
Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in rtality, morbidity, and shortcomings of ERT in a larger cohort of patients treated outside clinical trials. To accomplish this, we retrospectively analyzed the data of all 23 subjects with classical infantile Pompe disease having started ERT in Germany between January 2003 and December 2010...: Ten 作者: Evolve 時間: 2025-3-29 10:18
Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cor long-term outcomes of patients with Hurler syndrome who underwent umbilical cord blood transplantation from unrelated donors...: Only patients with Hurler syndrome who underwent umbilical cord blood transplantation between December 1995 and March 2006 (.?=?25) and who were followed for at least 5 y作者: Constrain 時間: 2025-3-29 13:23 作者: 收養(yǎng) 時間: 2025-3-29 17:43 作者: 泥瓦匠 時間: 2025-3-29 22:10 作者: SPECT 時間: 2025-3-30 01:19 作者: mastopexy 時間: 2025-3-30 08:05 作者: ARCH 時間: 2025-3-30 08:36 作者: Adenoma 時間: 2025-3-30 15:41
Erin R. McNamara,Stephanie Austin,Laura Case,John S. Wiener,Andrew C. Peterson,Priya S. Kishnanimic data.Edited and contributed by leading experts in genome.This two-volume set provides a general overview of the evolution of the human genome; The first volume overviews the human genome with descriptions of important gene groups. This second volume provides up-to-date, concise yet ample knowled作者: 腐敗 時間: 2025-3-30 16:55 作者: 忙碌 時間: 2025-3-30 23:20 作者: Implicit 時間: 2025-3-31 02:44 作者: Costume 時間: 2025-3-31 05:45 作者: Sinus-Node 時間: 2025-3-31 13:08
