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Neurology. Genetics

Showing results (81-90 of 1,011) with videos related to

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Neurology. Genetics|March 1, 2017
Redefining the phenotype of ALSP and <i>AARS2</i> mutation-related leukodystrophyRahul Lakshmanan, Matthew E Adams, David S Lynch, et al.
Neurology. Genetics|June 22, 2017
Previously unrecognized behavioral phenotype in Gaucher disease type 3Magy Abdelwahab, Michael Potegal, Elsa G Shapiro, et al.
Neurology. Genetics|September 21, 2016
Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myastheniaAndrew G Engel, Duygu Selcen, Xin-Ming Shen, et al.
Neurology. Genetics|July 27, 2018
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, et al.
Neurology. Genetics|August 2, 2018
Longitudinal analysis of contrast acuity in Friedreich ataxiaAli G Hamedani, Lauren A Hauser, Susan Perlman, et al.
Neurology. Genetics|August 2, 2018
Novel <i>ELOVL4</i> mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)Pierre R Bourque, Jodi Warman-Chardon, Daniel A Lelli, et al.
Neurology. Genetics|June 16, 2018
Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis-temporal lobe epilepsyPasquale Striano, Carlo Nobile
Neurology. Genetics|May 24, 2017
Compound heterozygous mutations in <i>MASP1</i> in a deaf child with absent cochlear nervesElina Kari, Isabelle Schrauwen, Lorida Llaci, et al.
Neurology. Genetics|May 17, 2017
Clinicopathologic and molecular spectrum of <i>RNASEH1</i>-related mitochondrial diseaseEnrico Bugiardini, Olivia V Poole, Andreea Manole, et al.
Neurology. Genetics|June 12, 2018
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathyMarkus T Sainio, Emil Ylikallio, Laura Mäenpää, et al.
Pageof 102

Showing results (81-90 of 1,011) with videos related to

Sort By:
Pageof 102
Neurology. Genetics|March 1, 2017
Redefining the phenotype of ALSP and <i>AARS2</i> mutation-related leukodystrophyRahul Lakshmanan, Matthew E Adams, David S Lynch, et al.
Neurology. Genetics|June 22, 2017
Previously unrecognized behavioral phenotype in Gaucher disease type 3Magy Abdelwahab, Michael Potegal, Elsa G Shapiro, et al.
Neurology. Genetics|September 21, 2016
Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myastheniaAndrew G Engel, Duygu Selcen, Xin-Ming Shen, et al.
Neurology. Genetics|July 27, 2018
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, et al.
Neurology. Genetics|August 2, 2018
Longitudinal analysis of contrast acuity in Friedreich ataxiaAli G Hamedani, Lauren A Hauser, Susan Perlman, et al.
Neurology. Genetics|August 2, 2018
Novel <i>ELOVL4</i> mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)Pierre R Bourque, Jodi Warman-Chardon, Daniel A Lelli, et al.
Neurology. Genetics|June 16, 2018
Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis-temporal lobe epilepsyPasquale Striano, Carlo Nobile
Neurology. Genetics|May 24, 2017
Compound heterozygous mutations in <i>MASP1</i> in a deaf child with absent cochlear nervesElina Kari, Isabelle Schrauwen, Lorida Llaci, et al.
Neurology. Genetics|May 17, 2017
Clinicopathologic and molecular spectrum of <i>RNASEH1</i>-related mitochondrial diseaseEnrico Bugiardini, Olivia V Poole, Andreea Manole, et al.
Neurology. Genetics|June 12, 2018
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathyMarkus T Sainio, Emil Ylikallio, Laura Mäenpää, et al.
Pageof 102