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Pediatric Transplantation
|
August 14, 2020
Liver failure and x-linked immunodeficiency type 47
Alexis J Gumm, Donald G Basel, Pooja Thakrar, et al.
Scientific Reports
|
May 23, 2026
Semantic embedding of variant effect annotations enables rapid and accurate pathogenicity prediction with VUS.Life
Jiawei Wu, Marissa Stutzman, Michael Muriello, et al.
Journal of the Association of Genetic Technologists
|
May 17, 2017
Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence
Randeep Brar, Donald G Basel, David P Bick, et al.
Pediatric Blood & Cancer
|
March 27, 2014
Early therapy-related myeloid sarcoma and deletion of 9q22.32 to q31.1
Molly M Brickler, Donald G Basel, Gabriela Gheorghe, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2025
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate
Guenter Schwarz, Donald G Basel, Bernd C Schwahn, et al.
Journal of Pediatric Genetics
|
February 15, 2018
Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier
Jess F Peterson, Gabrielle C Geddes, Donald G Basel, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP
|
October 16, 2020
Adaptive Behavior and Executive Functioning in Children with Neurofibromatosis Type 1 Using a Mixed Design
Danielle M Glad, Christina L Casnar, Brianna D Yund, et al.
Journal of Pediatric Genetics
|
February 15, 2018
A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the <i>XIST</i> Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33)
Jess F Peterson, Donald G Basel, David P Bick, et al.
Orphanet Journal of Rare Diseases
|
February 6, 2021
Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction
Young-In Chi, Timothy J Stodola, Thiago M De Assuncao, et al.
The Journal of Investigative Dermatology
|
November 28, 2017
Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics
Dawn H Siegel, Catherine E Cottrell, Jenna L Streicher, et al.
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Search research articles
Search
Showing results (1-10 of 15) with videos related to
Sort By:
Page
of 2
Pediatric Transplantation
|
August 14, 2020
Liver failure and x-linked immunodeficiency type 47
Alexis J Gumm, Donald G Basel, Pooja Thakrar, et al.
Scientific Reports
|
May 23, 2026
Semantic embedding of variant effect annotations enables rapid and accurate pathogenicity prediction with VUS.Life
Jiawei Wu, Marissa Stutzman, Michael Muriello, et al.
Journal of the Association of Genetic Technologists
|
May 17, 2017
Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence
Randeep Brar, Donald G Basel, David P Bick, et al.
Pediatric Blood & Cancer
|
March 27, 2014
Early therapy-related myeloid sarcoma and deletion of 9q22.32 to q31.1
Molly M Brickler, Donald G Basel, Gabriela Gheorghe, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2025
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate
Guenter Schwarz, Donald G Basel, Bernd C Schwahn, et al.
Journal of Pediatric Genetics
|
February 15, 2018
Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier
Jess F Peterson, Gabrielle C Geddes, Donald G Basel, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP
|
October 16, 2020
Adaptive Behavior and Executive Functioning in Children with Neurofibromatosis Type 1 Using a Mixed Design
Danielle M Glad, Christina L Casnar, Brianna D Yund, et al.
Journal of Pediatric Genetics
|
February 15, 2018
A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the <i>XIST</i> Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33)
Jess F Peterson, Donald G Basel, David P Bick, et al.
Orphanet Journal of Rare Diseases
|
February 6, 2021
Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction
Young-In Chi, Timothy J Stodola, Thiago M De Assuncao, et al.
The Journal of Investigative Dermatology
|
November 28, 2017
Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics
Dawn H Siegel, Catherine E Cottrell, Jenna L Streicher, et al.
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