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Marilyn C Jones

Showing results (21-30 of 53) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2017
Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorderMarilyn C Jones, Sarah E Topol, Manuel Rueda, et al.
Clinical Case Reports|April 19, 2019
Whole-exome sequencing reveals novel <i>USP9X</i> variant in female fetus with isolated agenesis of the corpus callosumJerica L Lenberg, Dolores H Pretorius, Eric S Rupe, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysisErica Sanford, Marilyn C Jones, Matthew Brigger, et al.
Cold Spring Harbor Molecular Case Studies|March 18, 2018
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infectionsNathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, et al.
American Journal of Medical Genetics. Part A|April 8, 2017
Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newbornKristen Wigby, Stephen R F Twigg, Ryan Broderick, et al.
American Journal of Medical Genetics. Part A|January 31, 2023
Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literatureShaden H Yassin, Riley Henderson, Jerica Lenberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2008
Developing a national collaborative study system for rare genetic diseasesMichael S Watson, Charles Epstein, R Rodney Howell, et al.
Cold Spring Harbor Molecular Case Studies|June 5, 2019
Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factorEva Tootleman, Barbara Malamut, Natacha Akshoomoff, et al.
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine|March 3, 2010
Evaluation of the fetal secondary palate by 3-dimensional ultrasonographyGladys A Ramos, Lorene E Romine, Liat Gindes, et al.
American Journal of Medical Genetics|February 22, 2002
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocolKaren W Gripp, Charles I Scott, Linda Nicholson, et al.
Pageof 6

Showing results (21-30 of 53) with videos related to

Sort By:
Pageof 6
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2017
Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorderMarilyn C Jones, Sarah E Topol, Manuel Rueda, et al.
Clinical Case Reports|April 19, 2019
Whole-exome sequencing reveals novel <i>USP9X</i> variant in female fetus with isolated agenesis of the corpus callosumJerica L Lenberg, Dolores H Pretorius, Eric S Rupe, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysisErica Sanford, Marilyn C Jones, Matthew Brigger, et al.
Cold Spring Harbor Molecular Case Studies|March 18, 2018
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infectionsNathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, et al.
American Journal of Medical Genetics. Part A|April 8, 2017
Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newbornKristen Wigby, Stephen R F Twigg, Ryan Broderick, et al.
American Journal of Medical Genetics. Part A|January 31, 2023
Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literatureShaden H Yassin, Riley Henderson, Jerica Lenberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2008
Developing a national collaborative study system for rare genetic diseasesMichael S Watson, Charles Epstein, R Rodney Howell, et al.
Cold Spring Harbor Molecular Case Studies|June 5, 2019
Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factorEva Tootleman, Barbara Malamut, Natacha Akshoomoff, et al.
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine|March 3, 2010
Evaluation of the fetal secondary palate by 3-dimensional ultrasonographyGladys A Ramos, Lorene E Romine, Liat Gindes, et al.
American Journal of Medical Genetics|February 22, 2002
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocolKaren W Gripp, Charles I Scott, Linda Nicholson, et al.
Pageof 6