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Laurie Demmer

Showing results (11-20 of 20) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2020
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disabilityJennifer Malinowski, David T Miller, Laurie Demmer, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosisKaren W Gripp, Dina J Zand, Laurie Demmer, et al.
JAMA|November 20, 2003
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stressSusan E Waisbren, Simone Albers, Steve Amato, et al.
Pediatrics|February 4, 2026
Improving Health-Related Social Needs Screening and Support Across a Pediatric Health Care SystemRishi Laroia, William Minor, Ashley Carr, et al.
Annals of Neurology|October 11, 2019
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental DisordersSeok Kyu Kang, Carlos G Vanoye, Sunita N Misra, et al.
Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Recommendations for the integration of genomics into clinical practiceSarah Bowdin, Adel Gilbert, Emma Bedoukian, et al.
American Journal of Medical Genetics. Part A|January 8, 2019
Cornelia de Lange syndrome in diverse populationsLeah Dowsett, Antonio R Porras, Paul Kruszka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2020
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disabilityJennifer Malinowski, David T Miller, Laurie Demmer, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosisKaren W Gripp, Dina J Zand, Laurie Demmer, et al.
JAMA|November 20, 2003
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stressSusan E Waisbren, Simone Albers, Steve Amato, et al.
Pediatrics|February 4, 2026
Improving Health-Related Social Needs Screening and Support Across a Pediatric Health Care SystemRishi Laroia, William Minor, Ashley Carr, et al.
Annals of Neurology|October 11, 2019
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental DisordersSeok Kyu Kang, Carlos G Vanoye, Sunita N Misra, et al.
Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Recommendations for the integration of genomics into clinical practiceSarah Bowdin, Adel Gilbert, Emma Bedoukian, et al.
American Journal of Medical Genetics. Part A|January 8, 2019
Cornelia de Lange syndrome in diverse populationsLeah Dowsett, Antonio R Porras, Paul Kruszka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
Pageof 2