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American Journal of Medical Genetics. Part A
|
July 12, 2023
15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature
Theru A Sivakumaran, Theresa A Grebe
American Journal of Medical Genetics. Part A
|
August 23, 2015
Chronic pain in Noonan Syndrome: A previously unreported but common symptom
Sravanthi Vegunta, Richard Cotugno, Amber Williamson, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
|
February 1, 2025
Systemic JAK inhibitors for treatment of cutaneous manifestations in a patient with SPINK5 variants: A case report and review of the literature
Bridget E Wilson, Theresa A Grebe, Supraja Prakash, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2025
First Report of Phosphoglycerate Kinase Deficiency in a Dinè Child With Review of Current Literature
Ariel Hierholzer, Jillian Mador, Rachna Guntu, et al.
Journal of Child Neurology
|
June 11, 2015
Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation
Neil Kulkarni, Sha Tang, Ratan Bhardwaj, et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology
|
April 8, 2024
Hypogammaglobulinemia in 2 children with Zhu-Tokita-Takenouchi-Kim syndrome
Payge Van Stechelman, Bridget Wilson, Theresa A Grebe, et al.
American Journal of Medical Genetics. Part A
|
February 11, 2021
A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation
Beate Peter, Nancy Scherer, Winnie S Liang, et al.
Life (Basel, Switzerland)
|
June 26, 2026
Chromosomal Microarray Analysis in Critically Ill Neonates and Children: Diagnostic Yield and Clinical Utility
Joshua Meyer, Emily Hershman, Ananditha Sivakumaran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 2, 2020
The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Theresa A Grebe, George Khushf, Margaret Chen, et al.
Pediatrics
|
February 22, 2012
Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children
Anita Pedersen, Sydney Pettygrove, F John Meaney, et al.
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Search research articles
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Showing results (1-10 of 31) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics. Part A
|
July 12, 2023
15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature
Theru A Sivakumaran, Theresa A Grebe
American Journal of Medical Genetics. Part A
|
August 23, 2015
Chronic pain in Noonan Syndrome: A previously unreported but common symptom
Sravanthi Vegunta, Richard Cotugno, Amber Williamson, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
|
February 1, 2025
Systemic JAK inhibitors for treatment of cutaneous manifestations in a patient with SPINK5 variants: A case report and review of the literature
Bridget E Wilson, Theresa A Grebe, Supraja Prakash, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2025
First Report of Phosphoglycerate Kinase Deficiency in a Dinè Child With Review of Current Literature
Ariel Hierholzer, Jillian Mador, Rachna Guntu, et al.
Journal of Child Neurology
|
June 11, 2015
Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation
Neil Kulkarni, Sha Tang, Ratan Bhardwaj, et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology
|
April 8, 2024
Hypogammaglobulinemia in 2 children with Zhu-Tokita-Takenouchi-Kim syndrome
Payge Van Stechelman, Bridget Wilson, Theresa A Grebe, et al.
American Journal of Medical Genetics. Part A
|
February 11, 2021
A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation
Beate Peter, Nancy Scherer, Winnie S Liang, et al.
Life (Basel, Switzerland)
|
June 26, 2026
Chromosomal Microarray Analysis in Critically Ill Neonates and Children: Diagnostic Yield and Clinical Utility
Joshua Meyer, Emily Hershman, Ananditha Sivakumaran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 2, 2020
The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Theresa A Grebe, George Khushf, Margaret Chen, et al.
Pediatrics
|
February 22, 2012
Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children
Anita Pedersen, Sydney Pettygrove, F John Meaney, et al.
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of 4