Search research articles
Contact Us
Filters
Showing results (11-20 of 34) with videos related to
Page
of 4
Sort By:
American Journal of Medical Genetics. Part A
|
August 3, 2016
FGFR-associated craniosynostosis syndromes and gastrointestinal defects
Christine E Hibberd, Sarah Bowdin, Yamini Arudchelvan, et al.
JIMD Reports
|
November 14, 2013
Danon Disease Due to a Novel LAMP2 Microduplication
Matthew A Lines, Stacy Hewson, William Halliday, et al.
Human Reproduction (Oxford, England)
|
October 9, 2007
A survey of assisted reproductive technology births and imprinting disorders
Sarah Bowdin, Cathy Allen, Gail Kirby, et al.
Journal of Pediatric Hematology/Oncology
|
November 27, 2013
Metachronous neuroblastoma in an infant with germline translocation resulting in partial trisomy 2p: a role for ALK?
Daniel A Morgenstern, Shui Yen Soh, Dimitri J Stavropoulos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 1, 2014
Loeys-Dietz syndrome: a primer for diagnosis and management
Gretchen MacCarrick, James H Black, Sarah Bowdin, et al.
Human Mutation
|
May 3, 2013
PhenoTips: patient phenotyping software for clinical and research use
Marta Girdea, Sergiu Dumitriu, Marc Fiume, et al.
Intensive Care Medicine
|
March 9, 2019
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
Courtney E French, Isabelle Delon, Helen Dolling, et al.
BMC Medical Education
|
November 7, 2024
Identifying barriers and opportunities to facilitate the uptake of whole genome sequencing in paediatric haematology and oncology practice
Michelle Bishop, Aditi Vedi, Sarah Bowdin, et al.
NPJ Genomic Medicine
|
December 22, 2017
Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
Iris Cohn, Tara A Paton, Christian R Marshall, et al.
Orphanet Journal of Rare Diseases
|
October 1, 2015
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
Tahir Atik, Asuman Koparir, Guney Bademci, et al.
Page
of 4
Search research articles
Search
Showing results (11-20 of 34) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics. Part A
|
August 3, 2016
FGFR-associated craniosynostosis syndromes and gastrointestinal defects
Christine E Hibberd, Sarah Bowdin, Yamini Arudchelvan, et al.
JIMD Reports
|
November 14, 2013
Danon Disease Due to a Novel LAMP2 Microduplication
Matthew A Lines, Stacy Hewson, William Halliday, et al.
Human Reproduction (Oxford, England)
|
October 9, 2007
A survey of assisted reproductive technology births and imprinting disorders
Sarah Bowdin, Cathy Allen, Gail Kirby, et al.
Journal of Pediatric Hematology/Oncology
|
November 27, 2013
Metachronous neuroblastoma in an infant with germline translocation resulting in partial trisomy 2p: a role for ALK?
Daniel A Morgenstern, Shui Yen Soh, Dimitri J Stavropoulos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 1, 2014
Loeys-Dietz syndrome: a primer for diagnosis and management
Gretchen MacCarrick, James H Black, Sarah Bowdin, et al.
Human Mutation
|
May 3, 2013
PhenoTips: patient phenotyping software for clinical and research use
Marta Girdea, Sergiu Dumitriu, Marc Fiume, et al.
Intensive Care Medicine
|
March 9, 2019
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
Courtney E French, Isabelle Delon, Helen Dolling, et al.
BMC Medical Education
|
November 7, 2024
Identifying barriers and opportunities to facilitate the uptake of whole genome sequencing in paediatric haematology and oncology practice
Michelle Bishop, Aditi Vedi, Sarah Bowdin, et al.
NPJ Genomic Medicine
|
December 22, 2017
Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
Iris Cohn, Tara A Paton, Christian R Marshall, et al.
Orphanet Journal of Rare Diseases
|
October 1, 2015
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
Tahir Atik, Asuman Koparir, Guney Bademci, et al.
Page
of 4