Resultados da busca - Lupski, James R.

Axonal Charcot-Marie-Tooth Disease and the Neurofilament Light Gene (NF-L) por Lupski, James R.

Obter o texto integral Obter o texto integral

Allan Award Introduction: Arthur L. Beaudet por Lupski, James R.

Obter o texto integral Obter o texto integral Obter o texto integral

Genomic disorders ten years on por Lupski, James R

Obter o texto integral Obter o texto integral Obter o texto integral

Genomic Disorders: Recombination-Based Disease Resulting from Genome Architecture por Lupski, James R.

Obter o texto integral Obter o texto integral

Cognitive Phenotypes and Genomic Copy Number Variations por Lupski, James R.

Obter o texto integral Obter o texto integral Obter o texto integral

Hotspots of homologous recombination in the human genome: not all homologous sequences are equal por Lupski, James R

Obter o texto integral Obter o texto integral Obter o texto integral

2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements por Lupski, James R.

Obter o texto integral Obter o texto integral Obter o texto integral

Clan Genomics: from OMIM phenotypic traits to genes and biology por Lupski, James R.

Obter o texto integral Obter o texto integral Obter o texto integral

Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine por Lupski, James R.

Obter o texto integral Obter o texto integral Obter o texto integral

Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes por Lupski, James R, Stankiewicz, Pawel

Obter o texto integral Obter o texto integral Obter o texto integral

Charcot–Marie–Tooth disease por Szigeti, Kinga, Lupski, James R

Obter o texto integral Obter o texto integral Obter o texto integral

Non-coding genetic variants in human disease por Zhang, Feng, Lupski, James R.

Obter o texto integral Obter o texto integral Obter o texto integral

From genes to genomes in the clinic por Veltman, Joris A., Lupski, James R.

Obter o texto integral Obter o texto integral Obter o texto integral

Penetrance of Craniofacial Anomalies in Mouse Models of Smith-Magenis Syndrome Is Modified by Genomic Sequence Surrounding Rai1: Not All Null Alleles Are Alike por Yan, Jiong, Bi, Weimin, Lupski, James R.

Obter o texto integral Obter o texto integral

Copy number variation at the breakpoint region of isochromosome 17q por Carvalho, Claudia M.B., Lupski, James R.

Obter o texto integral Obter o texto integral Obter o texto integral

Mechanisms for human genomic rearrangements por Gu, Wenli, Zhang, Feng, Lupski, James R

Obter o texto integral Obter o texto integral Obter o texto integral

Personal genome research: what should the participant be told? por McGuire, Amy L., Lupski, James R.

Obter o texto integral Obter o texto integral Obter o texto integral

A functional role for structural variation in metabolism por Lacaria, Melanie, Gu, Wenli, Lupski, James R.

Obter o texto integral Obter o texto integral Obter o texto integral

Circadian Abnormalities in Mouse Models of Smith–Magenis Syndrome: Evidence for Involvement of RAI1 por Lacaria, Melanie, Gu, Wenli, Lupski, James R

Obter o texto integral Obter o texto integral Obter o texto integral

Mechanisms underlying structural variant formation in genomic disorders por Carvalho, Claudia M. B., Lupski, James R.

Obter o texto integral Obter o texto integral Obter o texto integral