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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 1, 2023
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited
Jamie McDonald, Jenna Kornish, David A Stevenson, et al.
Pediatrics
|
January 5, 2002
Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
Terry Morgan, Jamie McDonald, Christina Anderson, et al.
Frontiers in Genetics
|
March 31, 2025
Case report: Novel homozygous <i>ACVRL1</i> missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele
Akash Mathavan, Akshay Mathavan, Urszula Krekora, et al.
American Journal of Medical Genetics. Part A
|
September 14, 2006
A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7
Pinar Bayrak-Toydemir, Jamie McDonald, Nurten Akarsu, et al.
Chest
|
May 10, 2023
The Shunt of It
Brittany M Scarpato, Jamie McDonald, Pinar Bayrak-Toydemir, et al.
International Journal of Molecular Sciences
|
July 27, 2024
Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT)
Kevin J Whitehead, Doruk Toydemir, Whitney Wooderchak-Donahue, et al.
The Laryngoscope
|
November 25, 2017
Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia
Cristian D Gonzalez, Jamie Mcdonald, David A Stevenson, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2006
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations
Pinar Bayrak-Toydemir, Jamie McDonald, Boaz Markewitz, et al.
Journal of the American Academy of Dermatology
|
March 2, 2019
Localization and age distribution of telangiectases in children and adolescents with hereditary hemorrhagic telangiectasia: A retrospective cohort study
Cristian D Gonzalez, Sarah D Cipriano, Christina A Topham, et al.
Nature Genetics
|
April 19, 2017
Pathogenic variants that alter protein code often disrupt splicing
Rachel Soemedi, Kamil J Cygan, Christy L Rhine, et al.
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Search research articles
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Showing results (21-30 of 57) with videos related to
Sort By:
Page
of 6
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 1, 2023
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited
Jamie McDonald, Jenna Kornish, David A Stevenson, et al.
Pediatrics
|
January 5, 2002
Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
Terry Morgan, Jamie McDonald, Christina Anderson, et al.
Frontiers in Genetics
|
March 31, 2025
Case report: Novel homozygous <i>ACVRL1</i> missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele
Akash Mathavan, Akshay Mathavan, Urszula Krekora, et al.
American Journal of Medical Genetics. Part A
|
September 14, 2006
A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7
Pinar Bayrak-Toydemir, Jamie McDonald, Nurten Akarsu, et al.
Chest
|
May 10, 2023
The Shunt of It
Brittany M Scarpato, Jamie McDonald, Pinar Bayrak-Toydemir, et al.
International Journal of Molecular Sciences
|
July 27, 2024
Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT)
Kevin J Whitehead, Doruk Toydemir, Whitney Wooderchak-Donahue, et al.
The Laryngoscope
|
November 25, 2017
Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia
Cristian D Gonzalez, Jamie Mcdonald, David A Stevenson, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2006
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations
Pinar Bayrak-Toydemir, Jamie McDonald, Boaz Markewitz, et al.
Journal of the American Academy of Dermatology
|
March 2, 2019
Localization and age distribution of telangiectases in children and adolescents with hereditary hemorrhagic telangiectasia: A retrospective cohort study
Cristian D Gonzalez, Sarah D Cipriano, Christina A Topham, et al.
Nature Genetics
|
April 19, 2017
Pathogenic variants that alter protein code often disrupt splicing
Rachel Soemedi, Kamil J Cygan, Christy L Rhine, et al.
Page
of 6