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J R Lupski

Showing results (201-210 of 209) with videos related to

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Neurology|December 6, 2008
Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and RehabilitationJ D England, G S Gronseth, G Franklin, et al.
Neurology|December 6, 2008
Practice Parameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review) [RETIRED]. Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and RehabilitationJ D England, G S Gronseth, G Franklin, et al.
PM & R : the Journal of Injury, Function, and Rehabilitation|July 25, 2009
Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and RehabilitationJ D England, G S Gronseth, G Franklin, et al.
American Journal of Human Genetics|June 13, 1998
Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2Y Liang, A Wang, F J Probst, et al.
Journal of Medical Genetics|July 9, 2009
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairmentS C Sreenath Nagamani, F Zhang, O A Shchelochkov, et al.
Journal of Medical Genetics|March 18, 2009
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disordersS Ben-Shachar, B Lanpher, J R German, et al.
Clinical and Experimental Immunology|July 22, 2014
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarrayD K Bayer, C A Martinez, H S Sorte, et al.
Journal of Medical Genetics|September 25, 2008
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficitsS R Lalani, J V Thakuria, G F Cox, et al.
The New England Journal of Medicine|January 8, 2015
TBX6 null variants and a common hypomorphic allele in congenital scoliosisN Wu, X Ming, J Xiao, et al.
Pageof 21

Showing results (201-210 of 209) with videos related to

Sort By:
Pageof 21
You have reached the last page of results.This site can display upto 209 results.
Neurology|December 6, 2008
Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and RehabilitationJ D England, G S Gronseth, G Franklin, et al.
Neurology|December 6, 2008
Practice Parameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review) [RETIRED]. Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and RehabilitationJ D England, G S Gronseth, G Franklin, et al.
PM & R : the Journal of Injury, Function, and Rehabilitation|July 25, 2009
Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and RehabilitationJ D England, G S Gronseth, G Franklin, et al.
American Journal of Human Genetics|June 13, 1998
Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2Y Liang, A Wang, F J Probst, et al.
Journal of Medical Genetics|July 9, 2009
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairmentS C Sreenath Nagamani, F Zhang, O A Shchelochkov, et al.
Journal of Medical Genetics|March 18, 2009
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disordersS Ben-Shachar, B Lanpher, J R German, et al.
Clinical and Experimental Immunology|July 22, 2014
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarrayD K Bayer, C A Martinez, H S Sorte, et al.
Journal of Medical Genetics|September 25, 2008
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficitsS R Lalani, J V Thakuria, G F Cox, et al.
The New England Journal of Medicine|January 8, 2015
TBX6 null variants and a common hypomorphic allele in congenital scoliosisN Wu, X Ming, J Xiao, et al.
Pageof 21