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Neurology
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December 26, 2018
A theory for polymicrogyria and brain arteriovenous malformations in HHT
Jesse M Klostranec, Long Chen, Shobhit Mathur, et al.
The Journal of Molecular Diagnostics : JMD
|
September 22, 2009
Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation
Jamie McDonald, Friederike Gedge, Allene Burdette, et al.
European Journal of Medical Genetics
|
December 28, 2011
RASA1 analysis: clinical and molecular findings in a series of consecutive cases
Whitney Wooderchak-Donahue, David A Stevenson, Jamie McDonald, et al.
Frontiers in Genetics
|
February 13, 2015
Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era
Jamie McDonald, Whitney Wooderchak-Donahue, Chad VanSant Webb, et al.
The Laryngoscope
|
September 16, 2015
An evaluation of the severity and progression of epistaxis in hereditary hemorrhagic telangiectasia 1 versus hereditary hemorrhagic telangiectasia 2
Benjamin N Hunter, Benjamin H Timmins, Jamie McDonald, et al.
Journal of Human Genetics
|
February 8, 2019
Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia
Lidia Ruiz-Llorente, Jamie McDonald, Whitney Wooderchak-Donahue, et al.
Experimental and Molecular Pathology
|
May 23, 2008
Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model
Pinar Bayrak-Toydemir, Jamie McDonald, Rong Mao, et al.
Journal of Medical Genetics
|
March 8, 2011
Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients
D Hunter Best, Cecily Vaughn, Jamie McDonald, et al.
The Journal of Molecular Diagnostics : JMD
|
March 27, 2007
Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations
Friederike Gedge, Jamie McDonald, Amit Phansalkar, et al.
Journal of Genetic Counseling
|
June 14, 2006
Exploring genetic counseling communication patterns: the role of teaching and counseling approaches
Lee Ellington, Bonnie J Baty, Jamie McDonald, et al.
Page
of 6
Search research articles
Search
Showing results (11-20 of 57) with videos related to
Sort By:
Page
of 6
Neurology
|
December 26, 2018
A theory for polymicrogyria and brain arteriovenous malformations in HHT
Jesse M Klostranec, Long Chen, Shobhit Mathur, et al.
The Journal of Molecular Diagnostics : JMD
|
September 22, 2009
Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation
Jamie McDonald, Friederike Gedge, Allene Burdette, et al.
European Journal of Medical Genetics
|
December 28, 2011
RASA1 analysis: clinical and molecular findings in a series of consecutive cases
Whitney Wooderchak-Donahue, David A Stevenson, Jamie McDonald, et al.
Frontiers in Genetics
|
February 13, 2015
Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era
Jamie McDonald, Whitney Wooderchak-Donahue, Chad VanSant Webb, et al.
The Laryngoscope
|
September 16, 2015
An evaluation of the severity and progression of epistaxis in hereditary hemorrhagic telangiectasia 1 versus hereditary hemorrhagic telangiectasia 2
Benjamin N Hunter, Benjamin H Timmins, Jamie McDonald, et al.
Journal of Human Genetics
|
February 8, 2019
Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia
Lidia Ruiz-Llorente, Jamie McDonald, Whitney Wooderchak-Donahue, et al.
Experimental and Molecular Pathology
|
May 23, 2008
Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model
Pinar Bayrak-Toydemir, Jamie McDonald, Rong Mao, et al.
Journal of Medical Genetics
|
March 8, 2011
Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients
D Hunter Best, Cecily Vaughn, Jamie McDonald, et al.
The Journal of Molecular Diagnostics : JMD
|
March 27, 2007
Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations
Friederike Gedge, Jamie McDonald, Amit Phansalkar, et al.
Journal of Genetic Counseling
|
June 14, 2006
Exploring genetic counseling communication patterns: the role of teaching and counseling approaches
Lee Ellington, Bonnie J Baty, Jamie McDonald, et al.
Page
of 6