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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 20, 2019
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants
Tracy Brandt, Laura M Sack, Dolores Arjona, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 18, 2019
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants
Tracy Brandt, Laura M Sack, Dolores Arjona, et al.
Circulation. Cardiovascular Genetics
|
September 12, 2013
Effect of copy number variants on outcomes for infants with single ventricle heart defects
Abigail S Carey, Li Liang, Jonathan Edwards, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2025
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing
Marissa W Mitchel, Matthew Oetjens, Alexander S F Berry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 4, 2015
Clinical application of whole-exome sequencing across clinical indications
Kyle Retterer, Jane Juusola, Megan T Cho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 6, 2020
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
Sakshi Singh, Aditi Gupta, Michael Zech, et al.
Pediatric Neurology
|
November 5, 2021
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
Jacqueline L Steele, Michelle M Morrow, Harvey B Sarnat, et al.
Nature Medicine
|
June 1, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
Payam Mohassel, Sandra Donkervoort, Museer A Lone, et al.
JAMA
|
October 24, 2024
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
Alban Ziegler, Carrie Koval-Burt, Denise M Kay, et al.
Molecular Psychiatry
|
November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
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Showing results (11-20 of 20) with videos related to
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This site can display upto 20 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 20, 2019
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants
Tracy Brandt, Laura M Sack, Dolores Arjona, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 18, 2019
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants
Tracy Brandt, Laura M Sack, Dolores Arjona, et al.
Circulation. Cardiovascular Genetics
|
September 12, 2013
Effect of copy number variants on outcomes for infants with single ventricle heart defects
Abigail S Carey, Li Liang, Jonathan Edwards, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2025
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing
Marissa W Mitchel, Matthew Oetjens, Alexander S F Berry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 4, 2015
Clinical application of whole-exome sequencing across clinical indications
Kyle Retterer, Jane Juusola, Megan T Cho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 6, 2020
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
Sakshi Singh, Aditi Gupta, Michael Zech, et al.
Pediatric Neurology
|
November 5, 2021
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
Jacqueline L Steele, Michelle M Morrow, Harvey B Sarnat, et al.
Nature Medicine
|
June 1, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
Payam Mohassel, Sandra Donkervoort, Museer A Lone, et al.
JAMA
|
October 24, 2024
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
Alban Ziegler, Carrie Koval-Burt, Denise M Kay, et al.
Molecular Psychiatry
|
November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
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of 2