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American Journal of Medical Genetics. Part A
|
August 7, 2025
Novel Intragenic Duplication of GATAD2B in a Patient With GAND
Mari Mori, Steven Estes, Swetha Ramadesikan, et al.
Children (Basel, Switzerland)
|
January 28, 2026
Managing the Uncertainty of "Precision" While Navigating Goals of Care: A Framework for Collaborative Interpretation of Complex Genomic Testing Results in Critically-Ill Neonates
DonnaMaria E Cortezzo, Katharine Press Callahan, Bimal P Chaudhari, et al.
Molecular Genetics and Metabolism
|
December 27, 2024
Feasibility of newborn screening for pyridoxine-dependent epilepsy
Kristine Pauly, Michael Woontner, Jose E Abdenur, et al.
Microorganisms
|
December 31, 2025
Fatal Congenital Toxoplasmosis with Progressive Liver Failure and Genomic Characterization of a Novel Isolate from the United States
Katsuaki Kojima, Indu Varier, Rouba Sayegh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 9, 2023
Provision and availability of genomic medicine services in Level IV neonatal intensive care units
Monica H Wojcik, Katharine P Callahan, Austin Antoniou, et al.
American Journal of Medical Genetics. Part A
|
June 2, 2025
A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder
Brandon S Stone, Swetha Ramadesikan, Regan McGinley, et al.
Plos Genetics
|
February 10, 2011
Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis
Ritva Haataja, Minna K Karjalainen, Aino Luukkonen, et al.
American Journal of Medical Genetics. Part A
|
May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay
Alanna Strong, Caoimhe McKenna, Karen Stals, et al.
American Journal of Medical Genetics. Part A
|
November 13, 2024
Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid Syndrome
Erica L Macke, Anthony R Miller, Caitlyn M Colwell, et al.
The Journal of Pediatrics
|
April 25, 2025
Management and Outcomes of Neonates with Treacher Collins and Nager Syndromes
Tara L Wenger, K Taylor Wild, Isabella Zaniletti, et al.
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Search research articles
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Showing results (31-40 of 49) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
August 7, 2025
Novel Intragenic Duplication of GATAD2B in a Patient With GAND
Mari Mori, Steven Estes, Swetha Ramadesikan, et al.
Children (Basel, Switzerland)
|
January 28, 2026
Managing the Uncertainty of "Precision" While Navigating Goals of Care: A Framework for Collaborative Interpretation of Complex Genomic Testing Results in Critically-Ill Neonates
DonnaMaria E Cortezzo, Katharine Press Callahan, Bimal P Chaudhari, et al.
Molecular Genetics and Metabolism
|
December 27, 2024
Feasibility of newborn screening for pyridoxine-dependent epilepsy
Kristine Pauly, Michael Woontner, Jose E Abdenur, et al.
Microorganisms
|
December 31, 2025
Fatal Congenital Toxoplasmosis with Progressive Liver Failure and Genomic Characterization of a Novel Isolate from the United States
Katsuaki Kojima, Indu Varier, Rouba Sayegh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 9, 2023
Provision and availability of genomic medicine services in Level IV neonatal intensive care units
Monica H Wojcik, Katharine P Callahan, Austin Antoniou, et al.
American Journal of Medical Genetics. Part A
|
June 2, 2025
A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder
Brandon S Stone, Swetha Ramadesikan, Regan McGinley, et al.
Plos Genetics
|
February 10, 2011
Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis
Ritva Haataja, Minna K Karjalainen, Aino Luukkonen, et al.
American Journal of Medical Genetics. Part A
|
May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay
Alanna Strong, Caoimhe McKenna, Karen Stals, et al.
American Journal of Medical Genetics. Part A
|
November 13, 2024
Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid Syndrome
Erica L Macke, Anthony R Miller, Caitlyn M Colwell, et al.
The Journal of Pediatrics
|
April 25, 2025
Management and Outcomes of Neonates with Treacher Collins and Nager Syndromes
Tara L Wenger, K Taylor Wild, Isabella Zaniletti, et al.
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of 5