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	1.	Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies. [electronic resource] by Shieh, Christine Moser, Franklin Graham, John M Watiker, Valerie Pierson, Tyler Mark Producer: 20160412 In: Neurology. Genetics vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A. [electronic resource] by Zhu, Peng-Peng Denton, Kyle R Pierson, Tyler Mark Li, Xue-Jun Blackstone, Craig Producer: 20150610 In: Human molecular genetics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. [electronic resource] by Pierson, Tyler Mark Bonnemann, Carsten G Finkel, Richard S Bunin, Nancy Tennekoon, Gihan I Producer: 20090109 In: Annals of neurology vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man. [electronic resource] by Pierson, Tyler Mark Tart, Gary Adams, David Toro, Camilo Golas, Gretchen Tifft, Cynthia Gahl, William Producer: 20110822 In: Neuromuscular disorders : NMD vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Increased frequency of congenital heart defects in Menkes disease. [electronic resource] by Hicks, Julia D Donsante, Anthony Pierson, Tyler M Gillespie, Matthew J Chou, Denise E Kaler, Stephen G Producer: 20120709 In: Clinical dysmorphology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	The NuRD complex and macrocephaly associated neurodevelopmental disorders. [electronic resource] by Pierson, Tyler Mark Otero, Maria G Grand, Katheryn Choi, Andrew Graham, John M Young, Juan I Mackay, Joel P Producer: 20200505 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 181 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a 5-year follow-up in three affected siblings. [electronic resource] by Cable, Casey Finkel, Richard S Lehky, Tanya J Biassou, Nadia M Wiggs, Edythe A Bunin, Nancy Pierson, Tyler Mark Producer: 20111024 In: Molecular genetics and metabolism vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	None [electronic resource] by Sahai, Supreet K Steiner, Rebecca E Au, Margaret G Graham, John M Salamon, Noriko Ibba, Michael Pierson, Tyler M Publication details: Annals of clinical and translational neurology Sep 2018 In: Annals of clinical and translational neurology vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance. [electronic resource] by Sincan, Murat Simeonov, Dimitre R Adams, David Markello, Thomas C Pierson, Tyler M Toro, Camilo Gahl, William A Boerkoel, Cornelius F Producer: 20120709 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel [electronic resource] by Fu, Jiao Korwutthikulrangsri, Manassawee Ramos-Platt, Leigh Pierson, Tyler M Liao, Xiao Hui Refetoff, Samuel Weiss, Roy E Dumitrescu, Alexandra M Producer: 20210603 In: Thyroid : official journal of the American Thyroid Association vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. [electronic resource] by Gan, Joanna J Garcia, Virginie Tian, Jane Tagliati, Michele Parisi, Joseph E Chung, Jeffrey M Lewis, Richard Baloh, Robert Levade, Thierry Pierson, Tyler Mark Producer: 20161028 In: Neuromuscular disorders : NMD vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Analysis of DNA sequence variants detected by high-throughput sequencing. [electronic resource] by Adams, David R Sincan, Murat Fuentes Fajardo, Karin Mullikin, James C Pierson, Tyler M Toro, Camilo Boerkoel, Cornelius F Tifft, Cynthia J Gahl, William A Markello, Tom C Producer: 20120709 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. [electronic resource] by Chen, Wenjuan Shieh, Christine Swanger, Sharon A Tankovic, Anel Au, Margaret McGuire, Marianne Tagliati, Michele Graham, John M Madan-Khetarpal, Suneeta Traynelis, Stephen F Yuan, Hongjie Pierson, Tyler Mark Producer: 20180118 In: Journal of human genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase. [electronic resource] by Pierson, Tyler Mark Torres, Paola A Zeng, Bei-Jin Glanzman, Allan M Adams, David Finkel, Richard S Mahuran, Don J Pastores, Gregory M Tennekoon, Gihan I Kolodny, Edwin H Producer: 20130605 In: Molecular genetics and metabolism vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. [electronic resource] by Renvoisé, Benoît Chang, Jaerak Singh, Rajat Yonekawa, Sayuri FitzGibbon, Edmond J Mankodi, Ami Vanderver, Adeline Schindler, Alice Toro, Camilo Gahl, William A Mahuran, Don J Blackstone, Craig Pierson, Tyler Mark Publication details: Annals of clinical and translational neurology Jun 2014 In: Annals of clinical and translational neurology vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. [electronic resource] by Jiang, Xiao Raju, Praveen K D'Avanzo, Nazzareno Lachance, Mathieu Pepin, Julie Dubeau, François Mitchell, Wendy G Bello-Espinosa, Luis E Pierson, Tyler M Minassian, Berge A Lacaille, Jean-Claude Rossignol, Elsa Producer: 20200414 In: Epilepsia vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. [electronic resource] by Yuan, Hongjie Hansen, Kasper B Zhang, Jing Pierson, Tyler Mark Markello, Thomas C Fajardo, Karin V Fuentes Holloman, Conisha M Golas, Gretchen Adams, David R Boerkoel, Cornelius F Gahl, William A Traynelis, Stephen F Producer: 20151112 In: Nature communications vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation. [electronic resource] by Tulli, Susanna Del Bondio, Andrea Baderna, Valentina Mazza, Davide Codazzi, Franca Pierson, Tyler Mark Ambrosi, Alessandro Nolte, Dagmar Goizet, Cyril Toro, Camilo Baets, Jonathan Deconinck, Tine DeJonghe, Peter Mandich, Paola Casari, Giorgio Maltecca, Francesca Producer: 20200603 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Inhibin A is an endocrine stimulator of bone mass and strength. [electronic resource] by Perrien, Daniel S Akel, Nisreen S Edwards, Paul K Carver, Adam A Bendre, Manali S Swain, Frances L Skinner, Robert A Hogue, William R Nicks, Kristy M Pierson, Tyler M Suva, Larry J Gaddy, Dana Producer: 20070424 In: Endocrinology vol. 148 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. [electronic resource] by Curiel, Julian Rodríguez Bey, Guillermo Takanohashi, Asako Bugiani, Marianna Fu, Xiaoqin Wolf, Nicole I Nmezi, Bruce Schiffmann, Raphael Bugaighis, Mona Pierson, Tyler Helman, Guy Simons, Cas van der Knaap, Marjo S Liu, Judy Padiath, Quasar Vanderver, Adeline Producer: 20180321 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 39 results.