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Benjamin D Solomon

Showing results (121-130 of 179) with videos related to

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American Journal of Medical Genetics. Part A|October 31, 2009
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmiaBenjamin D Solomon, Daniel E Pineda-Alvarez, Joan Z Balog, et al.
Familial Cancer|January 4, 2019
Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated PolyposisErin G Sutcliffe, Amanda Bartenbaker Thompson, Amy R Stettner, et al.
Medrxiv : the Preprint Server for Health Sciences|March 31, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment StatusKendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, et al.
The Journal of Allergy and Clinical Immunology. in Practice|January 31, 2023
Mimickers of Classical Urticaria: Cryopyrin-Associated Autoinflammatory Syndrome Presenting as Isolated Urticaria in an InfantBenjamin D Solomon, Meliha Skaljic, Lucy Y Liu, et al.
European Journal of Medical Genetics|July 4, 2012
GWAS reveals new recessive loci associated with non-syndromic facial cleftingMauricio Camargo, Dora Rivera, Lina Moreno, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
Utilization of genomic sequencing for population screening of immunodeficiencies in the newbornAshleigh R Pavey, Dale L Bodian, Thierry Vilboux, et al.
Nature Communications|January 20, 2016
New observations on maternal age effect on germline de novo mutationsWendy S W Wong, Benjamin D Solomon, Dale L Bodian, et al.
Nature Genetics|March 7, 2018
Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidenceJakob M Goldmann, Vladimir B Seplyarskiy, Wendy S W Wong, et al.
Nature Genetics|July 24, 2021
Publisher Correction: Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidenceJakob M Goldmann, Vladimir B Seplyarskiy, Wendy S W Wong, et al.
American Journal of Medical Genetics. Part A|December 9, 2022
Perspectives on the future of dysmorphologyBenjamin D Solomon, Margaret P Adam, Chin-To Fong, et al.
Pageof 18

Showing results (121-130 of 179) with videos related to

Sort By:
Pageof 18
American Journal of Medical Genetics. Part A|October 31, 2009
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmiaBenjamin D Solomon, Daniel E Pineda-Alvarez, Joan Z Balog, et al.
Familial Cancer|January 4, 2019
Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated PolyposisErin G Sutcliffe, Amanda Bartenbaker Thompson, Amy R Stettner, et al.
Medrxiv : the Preprint Server for Health Sciences|March 31, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment StatusKendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, et al.
The Journal of Allergy and Clinical Immunology. in Practice|January 31, 2023
Mimickers of Classical Urticaria: Cryopyrin-Associated Autoinflammatory Syndrome Presenting as Isolated Urticaria in an InfantBenjamin D Solomon, Meliha Skaljic, Lucy Y Liu, et al.
European Journal of Medical Genetics|July 4, 2012
GWAS reveals new recessive loci associated with non-syndromic facial cleftingMauricio Camargo, Dora Rivera, Lina Moreno, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
Utilization of genomic sequencing for population screening of immunodeficiencies in the newbornAshleigh R Pavey, Dale L Bodian, Thierry Vilboux, et al.
Nature Communications|January 20, 2016
New observations on maternal age effect on germline de novo mutationsWendy S W Wong, Benjamin D Solomon, Dale L Bodian, et al.
Nature Genetics|March 7, 2018
Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidenceJakob M Goldmann, Vladimir B Seplyarskiy, Wendy S W Wong, et al.
Nature Genetics|July 24, 2021
Publisher Correction: Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidenceJakob M Goldmann, Vladimir B Seplyarskiy, Wendy S W Wong, et al.
American Journal of Medical Genetics. Part A|December 9, 2022
Perspectives on the future of dysmorphologyBenjamin D Solomon, Margaret P Adam, Chin-To Fong, et al.
Pageof 18