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BMJ Open
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January 20, 2016
Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis
Sian Taylor-Phillips, Karoline Freeman, Julia Geppert, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2012
Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome
Roksana Armani, Hayley Archer, Angus Clarke, et al.
European Journal of Human Genetics : EJHG
|
May 12, 2016
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium
Sheharyar S Baig, Mark Strong, Elisabeth Rosser, et al.
Journal of Genetic Counseling
|
August 13, 2025
Addressing family communication in genetic counseling: A scoping review of process studies
Maria Barbosa, Milena Paneque, Sofia Fontoura Dias, et al.
Neuromuscular Disorders : NMD
|
December 7, 2002
Genotype-phenotype correlations in X-linked myotubular myopathy
Meriel McEntagart, Gretchen Parsons, Anna Buj-Bello, et al.
Orphanet Journal of Rare Diseases
|
April 15, 2025
Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus
Holm Schneider, Michael Schneider, Massimiliano Lia, et al.
British Journal of Clinical Pharmacology
|
April 7, 2020
Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects
Iris Körber, Ophir D Klein, Patrick Morhart, et al.
European Journal of Human Genetics : EJHG
|
September 16, 2016
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium
Sheharyar S Baig, Mark Strong, Elisabeth Rosser, et al.
Journal of Medical Genetics
|
August 15, 2006
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation
Hayley Archer, Julie Evans, Helen Leonard, et al.
Prenatal Diagnosis
|
November 6, 2018
Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography
Johanna Hammersen, Sigrun Wohlfart, Tamme W Goecke, et al.
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of 12
Search research articles
Search
Showing results (71-80 of 111) with videos related to
Sort By:
Page
of 12
BMJ Open
|
January 20, 2016
Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis
Sian Taylor-Phillips, Karoline Freeman, Julia Geppert, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2012
Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome
Roksana Armani, Hayley Archer, Angus Clarke, et al.
European Journal of Human Genetics : EJHG
|
May 12, 2016
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium
Sheharyar S Baig, Mark Strong, Elisabeth Rosser, et al.
Journal of Genetic Counseling
|
August 13, 2025
Addressing family communication in genetic counseling: A scoping review of process studies
Maria Barbosa, Milena Paneque, Sofia Fontoura Dias, et al.
Neuromuscular Disorders : NMD
|
December 7, 2002
Genotype-phenotype correlations in X-linked myotubular myopathy
Meriel McEntagart, Gretchen Parsons, Anna Buj-Bello, et al.
Orphanet Journal of Rare Diseases
|
April 15, 2025
Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus
Holm Schneider, Michael Schneider, Massimiliano Lia, et al.
British Journal of Clinical Pharmacology
|
April 7, 2020
Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects
Iris Körber, Ophir D Klein, Patrick Morhart, et al.
European Journal of Human Genetics : EJHG
|
September 16, 2016
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium
Sheharyar S Baig, Mark Strong, Elisabeth Rosser, et al.
Journal of Medical Genetics
|
August 15, 2006
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation
Hayley Archer, Julie Evans, Helen Leonard, et al.
Prenatal Diagnosis
|
November 6, 2018
Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography
Johanna Hammersen, Sigrun Wohlfart, Tamme W Goecke, et al.
Page
of 12