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Cynthia M Powell

Showing results (31-40 of 65) with videos related to

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American Journal of Medical Genetics. Part A|December 15, 2015
Survival of children with trisomy 13 and trisomy 18: A multi-state population-based studyRobert E Meyer, Gang Liu, Suzanne M Gilboa, et al.
Pediatrics|July 19, 2023
Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn ScreeningMargie A Ream, Wendy K K Lam, Scott D Grosse, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 16, 2007
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autismChrista Lese Martin, Jacqueline A Duvall, Yesim Ilkin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2022
Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United StatesMargie A Ream, Wendy K K Lam, Scott D Grosse, et al.
The Journal of Investigative Dermatology|July 26, 2013
AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndromeMarjorie J Lindhurst, Ji-An Wang, Hadley M Bloomhardt, et al.
American Journal of Medical Genetics. Part A|April 30, 2015
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and reviewNatario L Couser, Maheer M Masood, Natasha T Strande, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 1, 2021
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)Lora J H Bean, Maren T Scheuner, Michael F Murray, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2020
Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practiceNeeta L Vora, Kelly Gilmore, Alicia Brandt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 25, 2020
An approach to integrating exome sequencing for fetal structural anomalies into clinical practiceNeeta L Vora, Kelly Gilmore, Alicia Brandt, et al.
Trials|June 29, 2018
Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocolLaura V Milko, Christine Rini, Megan A Lewis, et al.
Pageof 7

Showing results (31-40 of 65) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|December 15, 2015
Survival of children with trisomy 13 and trisomy 18: A multi-state population-based studyRobert E Meyer, Gang Liu, Suzanne M Gilboa, et al.
Pediatrics|July 19, 2023
Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn ScreeningMargie A Ream, Wendy K K Lam, Scott D Grosse, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 16, 2007
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autismChrista Lese Martin, Jacqueline A Duvall, Yesim Ilkin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2022
Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United StatesMargie A Ream, Wendy K K Lam, Scott D Grosse, et al.
The Journal of Investigative Dermatology|July 26, 2013
AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndromeMarjorie J Lindhurst, Ji-An Wang, Hadley M Bloomhardt, et al.
American Journal of Medical Genetics. Part A|April 30, 2015
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and reviewNatario L Couser, Maheer M Masood, Natasha T Strande, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 1, 2021
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)Lora J H Bean, Maren T Scheuner, Michael F Murray, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2020
Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practiceNeeta L Vora, Kelly Gilmore, Alicia Brandt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 25, 2020
An approach to integrating exome sequencing for fetal structural anomalies into clinical practiceNeeta L Vora, Kelly Gilmore, Alicia Brandt, et al.
Trials|June 29, 2018
Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocolLaura V Milko, Christine Rini, Megan A Lewis, et al.
Pageof 7