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Elsevier电子期刊(10)

在“Elsevier电子期刊”中，命中：10条，耗时：0.0149599 秒

在所有数据库中总计命中：13条

1.Parents: Critical Stakeholders in Expanding Newborn Screening

作者：Lainie Friedman Ross ; MD ; PhD¹ ; ² ; ^{Lross@uchicago.edu} ; Darrel J. Waggoner ; MD¹ ; ³

关键词：ACMG ; American College of Medical Genetics ; HRSA ; Health Resources and Services Administration ; IRB ; Institutional review board ; LSD ; Lysosomal storage diseases ; SACHDNC ; Secretary's Advisory Committee on Heritable Disorders in Newborns and Children

刊名：The Journal of Pediatrics

出版年：2012

2.A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population

作者：Jessica?X. Chong ; Rebecca Ouwenga ; Rebecca?L. Anderson ; Darrel?J. Waggoner ; Carole Ober

刊名：The American Journal of Human Genetics

出版年：2012

3.Chondrodysplasia punctata associated with malabsorption from bariatric procedures

作者：Lisa Kang ; M.D.^a ; Denise Marty ; M.S.^b ; Richard M. Pauli ; M.D. ; Ph.D.^c ; Nancy J. Mendelsohn ; M.D.^d ; Vivek Prachand ; M.D.^e ; Darrel Waggoner ; M.D.^a ; ^f ; ^{dwaggone@genetics.uchicago.edu}

刊名：Surgery for Obesity and Related Diseases

出版年：2010

4.A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex

作者：Heather MacLeod ; Peter Pytel ; Robert Wollmann ; Ewa Chelmicka-Schorr ; Kenneth Silver ; Rebecca Brown Anderson ; Darrel Waggoner ; Elizabeth M. McNally

关键词：FKRP ; Congenital muscular dystrophy ; Sarcoglycan ; Dystroglycan ; Founder mutation

刊名：Neuromuscular Disorders

出版年：2007

5.Mechanisms of Disease: Epigenesis

作者：Darrel Waggoner

关键词：seizures ; epilepsy ; hypothalamic hamartoma ; endoscopic resection ; transcallosal resection

刊名：Seminars in Pediatric Neurology

出版年：2007

6.Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1

作者：Katrina Tatton-Brown ; Jenny Douglas ; Kim Coleman ; Geneviè ; ve Baujat ; Trevor R.P. Cole ; Soma Das ; Denise Horn ; Helen E. Hughes ; I. Karen Temple ; Francesca Faravelli ; Darrel Waggoner ; Seval Tü ; rkmen ; Valé ; rie Cormier-Daire ; Alex ; re Irrthum ; Nazneen Rahman ; Childhood Overgrowth Collaborati

刊名：The American Journal of Human Genetics

出版年：2005

7.Ophthalmoplegia in maple syrup urine disease

作者：Balaji Gupta ; Darrel Waggoner

关键词：Bronchial epithelial cells ; ERK1/2 ; GM-CSF ; MAP kinase ; Raf1

刊名：Journal of American Association for Pediatric Ophthalmology and Strabismus

出版年：2003

8.Motor neuron disease - SOD1 transgenic models

作者：Wong ; Philip C.Y. ; Waggoner ; Darrel ; Subramanian ; Jamuna R. ; Tessarollo ; Lino ; Bartnikas ; Thomas B. ; et. al.

刊名：Neurobiology of Aging

出版年：2000

9.The Role of Copper in Neurodegenerative Disease

作者：Waggoner ; Darrel J. ; Bartnikas ; Thomas B. ; Gitlin ; Jonathan D.

刊名：Neurobiology of Disease

出版年：1999

10.Selective convective brain cooling during normothermic cardiopulmonary bypass in dogs

作者：C.Thomas Wass ; Julian Waggoner III ; David G. Cable ; Hartzell V. Schaff ; Darrell R. Schroeder ; William L. Lanier

刊名：The Journal of Thoracic and Cardiovascular Surgery

出版年：1998

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