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Obstetric Medicine
|
May 5, 2025
Postpartum cardiogenic shock with rapid recovery in a Titin gene variant: The role of genetic predisposition in peripartum cardiomyopathy
Eva Karner, Hans Keller, Lilian Schäffl-Doweik, et al.
Clinical Case Reports
|
August 21, 2019
De novo mutation of emopamil binding protein (<i>EBP</i>) gene in a girl with Conradi-Hünermann-Happle syndrome
Ana Soler-Cardona, Oliver Brandau, Franco Laccone, et al.
Genes
|
December 24, 2021
Optical Genome Mapping in Routine Human Genetic Diagnostics-Its Advantages and Limitations
Paul Dremsek, Thomas Schwarz, Beatrix Weil, et al.
Journal of Autism and Developmental Disorders
|
February 19, 2009
Case report: Retracing atypical development: a preserved speech variant of Rett syndrome
Peter B Marschik, Christa Einspieler, Andreas Oberle, et al.
Neuromuscular Disorders : NMD
|
June 24, 2014
Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation
Josef Finsterer, Oliver Brandau, Claudia Stöllberger, et al.
Developmental Medicine and Child Neurology
|
December 17, 2009
'Relabelling the preserved speech variant of Rett syndrome?'
Peter B Marschik, Christa Einspieler, Heinz F R Prechtl, et al.
The American Journal of Cardiology
|
July 23, 2013
Usefulness of losartan on the size of the ascending aorta in an unselected cohort of children, adolescents, and young adults with Marfan syndrome
Christiane Pees, Franco Laccone, Marion Hagl, et al.
Scientific Reports
|
October 14, 2025
Optimized clonal isolation and immortalization of Rett syndrome patient fibroblasts for in vitro modeling of MECP2 mutations
Victoria Sarne, Anna Huber, Alexander V Beribisky, et al.
International Journal of Cardiology
|
April 15, 2014
Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction
Josef Finsterer, Claudia Stöllberger, Oliver Brandau, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
May 28, 2010
Variations of frataxin protein levels in normal individuals
Therese Boehm, Barbara Scheiber-Mojdehkar, Britta Kluge, et al.
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Search research articles
Search
Showing results (21-30 of 99) with videos related to
Sort By:
Page
of 10
Obstetric Medicine
|
May 5, 2025
Postpartum cardiogenic shock with rapid recovery in a Titin gene variant: The role of genetic predisposition in peripartum cardiomyopathy
Eva Karner, Hans Keller, Lilian Schäffl-Doweik, et al.
Clinical Case Reports
|
August 21, 2019
De novo mutation of emopamil binding protein (<i>EBP</i>) gene in a girl with Conradi-Hünermann-Happle syndrome
Ana Soler-Cardona, Oliver Brandau, Franco Laccone, et al.
Genes
|
December 24, 2021
Optical Genome Mapping in Routine Human Genetic Diagnostics-Its Advantages and Limitations
Paul Dremsek, Thomas Schwarz, Beatrix Weil, et al.
Journal of Autism and Developmental Disorders
|
February 19, 2009
Case report: Retracing atypical development: a preserved speech variant of Rett syndrome
Peter B Marschik, Christa Einspieler, Andreas Oberle, et al.
Neuromuscular Disorders : NMD
|
June 24, 2014
Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation
Josef Finsterer, Oliver Brandau, Claudia Stöllberger, et al.
Developmental Medicine and Child Neurology
|
December 17, 2009
'Relabelling the preserved speech variant of Rett syndrome?'
Peter B Marschik, Christa Einspieler, Heinz F R Prechtl, et al.
The American Journal of Cardiology
|
July 23, 2013
Usefulness of losartan on the size of the ascending aorta in an unselected cohort of children, adolescents, and young adults with Marfan syndrome
Christiane Pees, Franco Laccone, Marion Hagl, et al.
Scientific Reports
|
October 14, 2025
Optimized clonal isolation and immortalization of Rett syndrome patient fibroblasts for in vitro modeling of MECP2 mutations
Victoria Sarne, Anna Huber, Alexander V Beribisky, et al.
International Journal of Cardiology
|
April 15, 2014
Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction
Josef Finsterer, Claudia Stöllberger, Oliver Brandau, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
May 28, 2010
Variations of frataxin protein levels in normal individuals
Therese Boehm, Barbara Scheiber-Mojdehkar, Britta Kluge, et al.
Page
of 10