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146篇 您的检索式：作者名="Tuchman"

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	题名	作者	年代	出处	被引量
1	Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update显示文摘Ornithine transcarbamylase(OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle.OTC is one of the enzymes common to both the urea cycle and the bacterial arginine biosynthesis pathway; however, the role of OTC has changed over evolution. For animals with a urea cycle, defects in OTC can trigger hyperammonemic episodes that can lead to brain damage and death. This is the fifth mutation update for human OTC with previous updates reported in 1993, 1995, 2002, and 2006. In the2006 update, 341 mutations were reported. This current update contains 417 disease-causing mutations, and also is the first report of this series to incorporate information about natural variation of the OTC gene in the general population through examination of publicly available genomic data and examination of phenotype/genotype correlations from patients participating in the Urea Cycle Disorders Consortium Longitudinal Study and the first to evaluate the suitability of systematic computational approaches to predict severity of disease associated with different types of OTC mutations.	Ljubica Caldovic Iman Abdikarim Sahas Narain Mendel Tuchman Hiroki Morizono	2015	Journal of Genetics and Genomics2015，42，5：	19
2	Pre-gabalin for the treatment of painful diabetic peripheral neuropathy: a double-blind, placebo-controlled trial显示文摘	ROSENSTOCK J TUCHMAN M LAMOREAUX L	2004	Pain2004，110，3：	1
3	Telling Stories显示文摘	Tuchman G	1976	Journal of Communication1976，，4：	1
4	A novel missense mutation(G43S)in the switch I region of Rab27A causing Griscelli syndrome显示文摘	Westbroek W Tuchman M Tinloy B	2008	Mol Genet Metab2008，94，：	1
5	Comparison of airway responses following tracheal or esophageal acidification in the cat显示文摘	Tuchman D N Boyle J T Pack A I	1984	Gastroenterology1984，87，4：	1
6	Social and nonsocial factors in the childhood autism rating scale 显示文摘	Stella J Mundy P Tuchman R	1999	Journal of Autism and Developmental Disorders1999，29，4：	1
7	Pregabalin for the treatment of painful diabetic peripheral neuropathy: a double-blind, placebo-controlled trial显示文摘	Julio Rosenstock Michael Tuchman Linda LaMoreaux Uma Sharma	2004	Pain2004，，：	1
8	Diagnosis and surgical management of traumatic cerebrospinal fluid oculorrhea: Case report and systematic review of the literature显示文摘	Pease M Marquez Y Tuchman A	2013	J Neurol Surg Rep2013，74，1：	1
9	Mutations andpolymorphisms in the human ornithine transcarbamylase gene显示文摘	Tuchman M Jaleel N Morizono H	2002	Hum Mutat2002，19，2：	1
10	Telling Stories显示文摘	Tuchman G	1976	Journal of Communication1976，，4：	1
11	The importance of thermal stresses and strains induced in laser processing with focused Gaussian beams显示文摘	Welsh L P Tuchman J A Herman I P	1988	J Appl Phys1988，64，11：	1
12	Use of inducible feedback-resistant N-acetylglutamate synthtase genes for enchanced arginine biosynthesis by genetically engineered Escherichia coli K-12 strains显示文摘	Rajagopal BS DePonte J 3rd Tuchman M	1998	Applied and Environmental Microbiology1998，64，5：	1
13	查看详情显示文摘	C Orzel A K Tuchman M L Fenselau M Yasuda and M A Kasevich		0，，5512：	1
14	Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency显示文摘	Tuchman M Morizono It Rajagopal BS	1997	J Inherit Metab Dis1997，20，4：	1
15	Autism显示文摘	TUCHMAN R	2003	Neurol Clin2003，21，：	1
16	Managementand outcome of neonatal-onset ornithine transcarbamylasedeficiency following liver transplantation at 60 days of life 显示文摘	Ensenauer R Tuchman M El-Youssef M	2005	Mol Genet Metab2005，84，4：	1
17	Squeezed States in a Bose- Einstein Condensate 显示文摘	Orzel C Tuchman A K Fenselau M L	2001	Science2001，291，：	1
18	Interpretation of bio- markers of bone metabolism in children: impact of growth ve- locity and body size in healthy children and chronic disease 显示文摘	Tuchman S Thayu M Shults J	2008	J Pediatr2008，153，4：	1
19	Use of inducible feedback-resistant N-acetylglutamate synthetase (argA) genes for enhanced arginine biosynthesis by genetically engineered Escherichia coli K-12 strains显示文摘	Rajagopal BS DePonte J Tuchman M	1998	Appl Environ Microbiol1998，64，：	1
20	Endoscopic-Assisted Resection of Intracranial Epidermoid Tumors显示文摘	Tuchman A Platt A Winer J	2013	World Neurosurg2013，，：	1

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