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Henri Plauchu

Showing results (31-40 of 38) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2007
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT networkGaëtan Lesca, Carla Olivieri, Nelly Burnichon, et al.
Human Mutation|July 15, 2015
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner SyndromeDavor Lessel, Fuki M Hisama, Katalin Szakszon, et al.
Human Mutation|September 11, 2008
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disordersChantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, et al.
JAMA|March 8, 2012
Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac outputSophie Dupuis-Girod, Isabelle Ginon, Jean-Christophe Saurin, et al.
Circulation|December 10, 2009
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disordersDavid Attias, Chantal Stheneur, Carine Roy, et al.
European Heart Journal|August 17, 2010
Cardiovascular manifestations in men and women carrying a FBN1 mutationDelphine Détaint, Laurence Faivre, Gwenaelle Collod-Beroud, et al.
Nature Communications|January 12, 2012
Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasiaMichael Benzinou, Frederic F Clermont, Tom G W Letteboer, et al.
American Journal of Human Genetics|October 30, 2012
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndromeVirginie Carmignac, Julien Thevenon, Lesley Adès, et al.
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Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2007
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT networkGaëtan Lesca, Carla Olivieri, Nelly Burnichon, et al.
Human Mutation|July 15, 2015
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner SyndromeDavor Lessel, Fuki M Hisama, Katalin Szakszon, et al.
Human Mutation|September 11, 2008
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disordersChantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, et al.
JAMA|March 8, 2012
Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac outputSophie Dupuis-Girod, Isabelle Ginon, Jean-Christophe Saurin, et al.
Circulation|December 10, 2009
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disordersDavid Attias, Chantal Stheneur, Carine Roy, et al.
European Heart Journal|August 17, 2010
Cardiovascular manifestations in men and women carrying a FBN1 mutationDelphine Détaint, Laurence Faivre, Gwenaelle Collod-Beroud, et al.
Nature Communications|January 12, 2012
Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasiaMichael Benzinou, Frederic F Clermont, Tom G W Letteboer, et al.
American Journal of Human Genetics|October 30, 2012
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndromeVirginie Carmignac, Julien Thevenon, Lesley Adès, et al.
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