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Clinical Genetics
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October 13, 2009
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
S Saal, L Faivre, Bernard Aral, et al.
Blood
|
May 13, 2006
Predictive factors for thrombosis and major bleeding in an observational study in 181 patients with heparin-induced thrombocytopenia treated with lepirudin
Bernard Tardy, Thomas Lecompte, Françoise Boelhen, et al.
American Journal of Medical Genetics. Part A
|
May 1, 2014
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity
Marie-Laure Vuillaume, Sophie Naudion, Guillaume Banneau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 13, 2018
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, et al.
American Journal of Human Genetics
|
August 14, 2012
TCTN3 mutations cause Mohr-Majewski syndrome
Sophie Thomas, Marine Legendre, Sophie Saunier, et al.
Research and Practice in Thrombosis and Haemostasis
|
October 23, 2023
Surgery in rare bleeding disorders: the prospective MARACHI study
Florence Rousseau, Benoit Guillet, Thibault Mura, et al.
European Journal of Medical Genetics
|
November 26, 2018
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
Elizabeth J Bhoj, Damien Haye, Annick Toutain, et al.
Journal of Thrombosis and Haemostasis : JTH
|
August 11, 2024
Sensitivity and specificity of strategies to identify patients with hemostasis abnormalities leading to an increased risk of bleeding before scheduled intervention: the Hemorisk study
Nadine Ajzenberg, Dan Longrois, Dorothée Faille, et al.
Human Mutation
|
May 28, 2011
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
Cyril Goizet, Christel Depienne, Giovanni Benard, et al.
Clinical Genetics
|
March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
N Lehman, A C Mazery, A Visier, et al.
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of 89
Search research articles
Search
Showing results (781-790 of 885) with videos related to
Sort By:
Page
of 89
Clinical Genetics
|
October 13, 2009
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
S Saal, L Faivre, Bernard Aral, et al.
Blood
|
May 13, 2006
Predictive factors for thrombosis and major bleeding in an observational study in 181 patients with heparin-induced thrombocytopenia treated with lepirudin
Bernard Tardy, Thomas Lecompte, Françoise Boelhen, et al.
American Journal of Medical Genetics. Part A
|
May 1, 2014
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity
Marie-Laure Vuillaume, Sophie Naudion, Guillaume Banneau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 13, 2018
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, et al.
American Journal of Human Genetics
|
August 14, 2012
TCTN3 mutations cause Mohr-Majewski syndrome
Sophie Thomas, Marine Legendre, Sophie Saunier, et al.
Research and Practice in Thrombosis and Haemostasis
|
October 23, 2023
Surgery in rare bleeding disorders: the prospective MARACHI study
Florence Rousseau, Benoit Guillet, Thibault Mura, et al.
European Journal of Medical Genetics
|
November 26, 2018
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
Elizabeth J Bhoj, Damien Haye, Annick Toutain, et al.
Journal of Thrombosis and Haemostasis : JTH
|
August 11, 2024
Sensitivity and specificity of strategies to identify patients with hemostasis abnormalities leading to an increased risk of bleeding before scheduled intervention: the Hemorisk study
Nadine Ajzenberg, Dan Longrois, Dorothée Faille, et al.
Human Mutation
|
May 28, 2011
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
Cyril Goizet, Christel Depienne, Giovanni Benard, et al.
Clinical Genetics
|
March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
N Lehman, A C Mazery, A Visier, et al.
Page
of 89