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Timothy W Yu

Showing results (41-50 of 92) with videos related to

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Nature Genetics|June 19, 2019
Recessive gene disruptions in autism spectrum disorderRyan N Doan, Elaine T Lim, Silvia De Rubeis, et al.
Human Molecular Genetics|June 14, 2014
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentationsStefania Di Costanzo, Anuradha Balasubramanian, Heather L Pond, et al.
Orphanet Journal of Rare Diseases|May 22, 2026
Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapiesNicole Nolen, Annemieke Aartsma-Rus, Christine Caneva, et al.
Scientific Reports|August 22, 2020
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorderKlaus Schmitz-Abe, Guzman Sanchez-Schmitz, Ryan N Doan, et al.
Iscience|September 12, 2022
CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entryElena-Sofia Heinl, Sebastian Lorenz, Barbara Schmidt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 30, 2019
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yieldCynthia S Gubbels, Grace E VanNoy, Jill A Madden, et al.
Nature Genetics|October 5, 2010
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architectureTimothy W Yu, Ganeshwaran H Mochida, David J Tischfield, et al.
American Journal of Human Genetics|January 5, 2019
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq ProjectOzge Ceyhan-Birsoy, Jaclyn B Murry, Kalotina Machini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2024
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefrontClémence Vanlerberghe, Frédéric Frénois, Thomas Smol, et al.
European Journal of Human Genetics : EJHG|April 14, 2019
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomesKlaus Schmitz-Abe, Qifei Li, Samantha M Rosen, et al.
Pageof 10

Showing results (41-50 of 92) with videos related to

Sort By:
Pageof 10
Nature Genetics|June 19, 2019
Recessive gene disruptions in autism spectrum disorderRyan N Doan, Elaine T Lim, Silvia De Rubeis, et al.
Human Molecular Genetics|June 14, 2014
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentationsStefania Di Costanzo, Anuradha Balasubramanian, Heather L Pond, et al.
Orphanet Journal of Rare Diseases|May 22, 2026
Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapiesNicole Nolen, Annemieke Aartsma-Rus, Christine Caneva, et al.
Scientific Reports|August 22, 2020
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorderKlaus Schmitz-Abe, Guzman Sanchez-Schmitz, Ryan N Doan, et al.
Iscience|September 12, 2022
CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entryElena-Sofia Heinl, Sebastian Lorenz, Barbara Schmidt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 30, 2019
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yieldCynthia S Gubbels, Grace E VanNoy, Jill A Madden, et al.
Nature Genetics|October 5, 2010
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architectureTimothy W Yu, Ganeshwaran H Mochida, David J Tischfield, et al.
American Journal of Human Genetics|January 5, 2019
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq ProjectOzge Ceyhan-Birsoy, Jaclyn B Murry, Kalotina Machini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2024
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefrontClémence Vanlerberghe, Frédéric Frénois, Thomas Smol, et al.
European Journal of Human Genetics : EJHG|April 14, 2019
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomesKlaus Schmitz-Abe, Qifei Li, Samantha M Rosen, et al.
Pageof 10