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Helen V Firth

Showing results (61-70 of 116) with videos related to

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Plos Genetics|September 3, 2020
Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesityZhengzheng S Liang, Irene Cimino, Binnaz Yalcin, et al.
European Journal of Human Genetics : EJHG|October 12, 2025
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disordersKaren J Low, Julia Foreman, Rachel J Hobson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 31, 2020
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersSiddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 12, 2019
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersSiddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disordersCaroline F Wright, Jeremy F McRae, Stephen Clayton, et al.
American Journal of Human Genetics|April 1, 2005
Microduplication and triplication of 22q11.2: a highly variable syndromeTwila M Yobb, Martin J Somerville, Lionel Willatt, et al.
American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.
Nature|September 28, 2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disordersMari E K Niemi, Hilary C Martin, Daniel L Rice, et al.
Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.
Nature Communications|January 28, 2021
The contribution of X-linked coding variation to severe developmental disordersHilary C Martin, Eugene J Gardner, Kaitlin E Samocha, et al.
Pageof 12

Showing results (61-70 of 116) with videos related to

Sort By:
Pageof 12
Plos Genetics|September 3, 2020
Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesityZhengzheng S Liang, Irene Cimino, Binnaz Yalcin, et al.
European Journal of Human Genetics : EJHG|October 12, 2025
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disordersKaren J Low, Julia Foreman, Rachel J Hobson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 31, 2020
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersSiddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 12, 2019
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersSiddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disordersCaroline F Wright, Jeremy F McRae, Stephen Clayton, et al.
American Journal of Human Genetics|April 1, 2005
Microduplication and triplication of 22q11.2: a highly variable syndromeTwila M Yobb, Martin J Somerville, Lionel Willatt, et al.
American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.
Nature|September 28, 2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disordersMari E K Niemi, Hilary C Martin, Daniel L Rice, et al.
Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.
Nature Communications|January 28, 2021
The contribution of X-linked coding variation to severe developmental disordersHilary C Martin, Eugene J Gardner, Kaitlin E Samocha, et al.
Pageof 12