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Helen V Firth

Showing results (41-50 of 116) with videos related to

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American Journal of Human Genetics|April 7, 2009
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesHelen V Firth, Shola M Richards, A Paul Bevan, et al.
Journal of Medical Genetics|June 5, 2007
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three childrenFarah Zahir, Helen V Firth, Agnes Baross, et al.
Cell Reports. Medicine|August 16, 2023
Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic diseaseRuth Hanssen, Chiara Auwerx, Maarja Jõeloo, et al.
Lancet (London, England)|December 9, 2023
Population screening requires robust evidence-genomics is no exceptionClare Turnbull, Helen V Firth, Andrew O M Wilkie, et al.
Nature|March 22, 2018
De novo mutations in regulatory elements in neurodevelopmental disordersPatrick J Short, Jeremy F McRae, Giuseppe Gallone, et al.
Human Molecular Genetics|May 22, 2024
PSMC5 insufficiency and P320R mutation impair proteasome functionZhong-Qiu Yu, Jenny Carmichael, Galen A Collins, et al.
American Journal of Human Genetics|October 9, 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disordersEugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, et al.
Genome Medicine|October 31, 2025
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disordersOlivia Wootton, Patrick Campbell, Sarah Richardson, et al.
European Journal of Human Genetics : EJHG|May 28, 2009
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patientsHartmut Engels, Eva Wohlleber, Alexander Zink, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12ValEmma M M Burkitt-Wright, Lisa Bradley, Jennifer Shorto, et al.
Pageof 12

Showing results (41-50 of 116) with videos related to

Sort By:
Pageof 12
American Journal of Human Genetics|April 7, 2009
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesHelen V Firth, Shola M Richards, A Paul Bevan, et al.
Journal of Medical Genetics|June 5, 2007
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three childrenFarah Zahir, Helen V Firth, Agnes Baross, et al.
Cell Reports. Medicine|August 16, 2023
Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic diseaseRuth Hanssen, Chiara Auwerx, Maarja Jõeloo, et al.
Lancet (London, England)|December 9, 2023
Population screening requires robust evidence-genomics is no exceptionClare Turnbull, Helen V Firth, Andrew O M Wilkie, et al.
Nature|March 22, 2018
De novo mutations in regulatory elements in neurodevelopmental disordersPatrick J Short, Jeremy F McRae, Giuseppe Gallone, et al.
Human Molecular Genetics|May 22, 2024
PSMC5 insufficiency and P320R mutation impair proteasome functionZhong-Qiu Yu, Jenny Carmichael, Galen A Collins, et al.
American Journal of Human Genetics|October 9, 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disordersEugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, et al.
Genome Medicine|October 31, 2025
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disordersOlivia Wootton, Patrick Campbell, Sarah Richardson, et al.
European Journal of Human Genetics : EJHG|May 28, 2009
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patientsHartmut Engels, Eva Wohlleber, Alexander Zink, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12ValEmma M M Burkitt-Wright, Lisa Bradley, Jennifer Shorto, et al.
Pageof 12