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J R Lupski

Showing results (191-200 of 209) with videos related to

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Nature Genetics|March 1, 1997
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophyR Allikmets, N Singh, H Sun, et al.
Human Genetics|April 26, 2007
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomaliesL E L M Vissers, P Stankiewicz, S A Yatsenko, et al.
Journal of Medical Genetics|December 5, 2008
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de LangeJ Yan, F Zhang, E Brundage, et al.
Journal of Dental Research|August 17, 2017
Whole-Exome Sequencing Identifies Novel Variants for Tooth AgenesisN Dinckan, R Du, L E Petty, et al.
Human Mutation|October 1, 2003
Genotyping microarray (gene chip) for the ABCR (ABCA4) geneK Jaakson, J Zernant, M Külm, et al.
Brain : a Journal of Neurology|February 5, 2003
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth diseaseA Jordanova, P De Jonghe, C F Boerkoel, et al.
Molecular Psychiatry|September 9, 2015
Altered neuronal network and rescue in a human MECP2 duplication modelS Nageshappa, C Carromeu, C A Trujillo, 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 autonomic testing, nerve biopsy, and skin biopsy (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.
Muscle & Nerve|December 18, 2008
Evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review)J D England, G S Gronseth, G Franklin, et al.
Muscle & Nerve|December 18, 2008
Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review)J D England, G S Gronseth, G Franklin, et al.
Pageof 21

Showing results (191-200 of 209) with videos related to

Sort By:
Pageof 21
Nature Genetics|March 1, 1997
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophyR Allikmets, N Singh, H Sun, et al.
Human Genetics|April 26, 2007
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomaliesL E L M Vissers, P Stankiewicz, S A Yatsenko, et al.
Journal of Medical Genetics|December 5, 2008
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de LangeJ Yan, F Zhang, E Brundage, et al.
Journal of Dental Research|August 17, 2017
Whole-Exome Sequencing Identifies Novel Variants for Tooth AgenesisN Dinckan, R Du, L E Petty, et al.
Human Mutation|October 1, 2003
Genotyping microarray (gene chip) for the ABCR (ABCA4) geneK Jaakson, J Zernant, M Külm, et al.
Brain : a Journal of Neurology|February 5, 2003
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth diseaseA Jordanova, P De Jonghe, C F Boerkoel, et al.
Molecular Psychiatry|September 9, 2015
Altered neuronal network and rescue in a human MECP2 duplication modelS Nageshappa, C Carromeu, C A Trujillo, 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 autonomic testing, nerve biopsy, and skin biopsy (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.
Muscle & Nerve|December 18, 2008
Evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review)J D England, G S Gronseth, G Franklin, et al.
Muscle & Nerve|December 18, 2008
Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review)J D England, G S Gronseth, G Franklin, et al.
Pageof 21