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Timothy W Yu

Showing results (51-60 of 92) with videos related to

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Therapeutic Advances in Rare Disease|May 29, 2025
From roadmap to a sustainable end-to-end individualized therapy pathwayAnneliene H Jonker, Elena-Alexandra Tataru, David P Dimmock, et al.
Cold Spring Harbor Molecular Case Studies|September 15, 2016
A novel de novo mutation in ATP1A3 and childhood-onset schizophreniaNiklas Smedemark-Margulies, Catherine A Brownstein, Sigella Vargas, et al.
Journal of Human Genetics|October 7, 2016
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesHemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, et al.
NPJ Genomic Medicine|July 14, 2020
Children's rare disease cohorts: an integrative research and clinical genomics initiativeShira Rockowitz, Nicholas LeCompte, Mary Carmack, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2018
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case reportJaclyn B Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2018
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq ProjectCasie A Genetti, Talia S Schwartz, Jill O Robinson, et al.
American Journal of Medical Genetics. Part A|February 19, 2016
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reportsCatherine A Brownstein, Robin J Kleiman, Elizabeth C Engle, et al.
Pediatric Research|January 17, 2025
Pediatric erythromelalgia from multidisciplinary perspectives: a scoping reviewDon Daniel Ocay, Maria Graziano Maloney, Genevieve D'Souza, et al.
BMC Pediatrics|July 11, 2018
The BabySeq project: implementing genomic sequencing in newbornsIngrid A Holm, Pankaj B Agrawal, Ozge Ceyhan-Birsoy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2025
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort studyDavid Cheerie, Marlen C Lauffer, Logan Newton, et al.
Pageof 10

Showing results (51-60 of 92) with videos related to

Sort By:
Pageof 10
Therapeutic Advances in Rare Disease|May 29, 2025
From roadmap to a sustainable end-to-end individualized therapy pathwayAnneliene H Jonker, Elena-Alexandra Tataru, David P Dimmock, et al.
Cold Spring Harbor Molecular Case Studies|September 15, 2016
A novel de novo mutation in ATP1A3 and childhood-onset schizophreniaNiklas Smedemark-Margulies, Catherine A Brownstein, Sigella Vargas, et al.
Journal of Human Genetics|October 7, 2016
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesHemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, et al.
NPJ Genomic Medicine|July 14, 2020
Children's rare disease cohorts: an integrative research and clinical genomics initiativeShira Rockowitz, Nicholas LeCompte, Mary Carmack, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2018
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case reportJaclyn B Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2018
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq ProjectCasie A Genetti, Talia S Schwartz, Jill O Robinson, et al.
American Journal of Medical Genetics. Part A|February 19, 2016
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reportsCatherine A Brownstein, Robin J Kleiman, Elizabeth C Engle, et al.
Pediatric Research|January 17, 2025
Pediatric erythromelalgia from multidisciplinary perspectives: a scoping reviewDon Daniel Ocay, Maria Graziano Maloney, Genevieve D'Souza, et al.
BMC Pediatrics|July 11, 2018
The BabySeq project: implementing genomic sequencing in newbornsIngrid A Holm, Pankaj B Agrawal, Ozge Ceyhan-Birsoy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2025
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort studyDavid Cheerie, Marlen C Lauffer, Logan Newton, et al.
Pageof 10