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Philip M Boone

Showing results (1-10 of 41) with videos related to

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Pediatrics|July 3, 2016
Adolescents, Family History, and Inherited Disease Risk: An OpportunityPhilip M Boone
Human Genetics|May 20, 2011
Genomic medicine and neurological diseasePhilip M Boone, Wojciech Wiszniewski, James R Lupski
Nature Reviews. Genetics|May 12, 2025
X-linked competition - implications for human development and diseasePhilip M Boone, Teresa Buenaventura, James W D King, et al.
American Journal of Respiratory and Critical Care Medicine|January 26, 2019
The Genetics of PneumothoraxPhilip M Boone, Rachel M Scott, Stefan J Marciniak, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutationsPhilip M Boone, Russel J Reiter, Daniel G Glaze, et al.
Thorax|December 31, 2017
Familial pneumothorax: towards precision medicineRachel M Scott, Elizabeth P Henske, Benjamin Raby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2011
Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegiaPhilip M Boone, Pengfei Liu, Feng Zhang, et al.
American Journal of Medical Genetics. Part A|July 14, 2016
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutationPhilip M Boone, Yiu Man Chan, Jill V Hunter, et al.
European Journal of Medical Genetics|June 17, 2020
Free, online videos for distance learning in medical geneticsSarah Maggipinto, Angela Chen, Dustin Huynh, et al.
Genomics Data|August 11, 2015
Platform comparison of detecting copy number variants with microarrays and whole-exome sequencingJoep de Ligt, Philip M Boone, Rolph Pfundt, et al.
Pageof 5

Showing results (1-10 of 41) with videos related to

Sort By:
Pageof 5
Pediatrics|July 3, 2016
Adolescents, Family History, and Inherited Disease Risk: An OpportunityPhilip M Boone
Human Genetics|May 20, 2011
Genomic medicine and neurological diseasePhilip M Boone, Wojciech Wiszniewski, James R Lupski
Nature Reviews. Genetics|May 12, 2025
X-linked competition - implications for human development and diseasePhilip M Boone, Teresa Buenaventura, James W D King, et al.
American Journal of Respiratory and Critical Care Medicine|January 26, 2019
The Genetics of PneumothoraxPhilip M Boone, Rachel M Scott, Stefan J Marciniak, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutationsPhilip M Boone, Russel J Reiter, Daniel G Glaze, et al.
Thorax|December 31, 2017
Familial pneumothorax: towards precision medicineRachel M Scott, Elizabeth P Henske, Benjamin Raby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2011
Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegiaPhilip M Boone, Pengfei Liu, Feng Zhang, et al.
American Journal of Medical Genetics. Part A|July 14, 2016
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutationPhilip M Boone, Yiu Man Chan, Jill V Hunter, et al.
European Journal of Medical Genetics|June 17, 2020
Free, online videos for distance learning in medical geneticsSarah Maggipinto, Angela Chen, Dustin Huynh, et al.
Genomics Data|August 11, 2015
Platform comparison of detecting copy number variants with microarrays and whole-exome sequencingJoep de Ligt, Philip M Boone, Rolph Pfundt, et al.
Pageof 5