Emil D. Bartels

Hypertrophic Cardiomyopathy: The Impact of Age at Diagnosis of the Proband on Genetic Yield, Clinical Presentation, Outcomes, and Yield of Family Screening

Elvira Silajdzija, Christoffer Rasmus Vissing, Emma Basse Christensen, Helen Mills et autres

dk (code pays fourni par la source)

Recurrent Venous Thrombosis in a Hypofibrinogenemic Patient Despite a Heterozygous Deletion of the Fibrinogen Gene Cluster and Hemizygous FGB p.Pro265Leu Variant Mimicking a Homozygous Genotype

Sutharshini Punniyamoorthy, Eva Leinøe, Esther Jensen, Emil D. Bartels et autres

dk (code pays fourni par la source)

Homozygosity for a variant in SLC10A2 and infancy onset severe fat‐soluble vitamin deficiency due to bile acid malabsorption

Christine Rungoe, Stefan Stender, Nawar Dalila, Emil D. Bartels et autres

dk (code pays fourni par la source)

Hypertrophic Cardiomyopathy – The Impact of Age at Diagnosis of the Proband on Genetic Yield, Clinical Presentation, Outcomes, and Yield of Family Screening

Elvira Silajdzija, Christoffer Rasmus Vissing, Emma Basse Christensen, Helen Mills et autres

dk (code pays fourni par la source)

Family Screening in Hypertrophic Cardiomyopathy

Elvira Silajdzija, Christoffer Rasmus Vissing, Emma Basse Christensen, Helen Lamiokor Mills et autres

dk (code pays fourni par la source)

Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort

Sophia Hammer‐Hansen, Ulrik Kristoffer Stoltze, Emil D. Bartels, Thomas van Overeem Hansen et autres

dk (code pays fourni par la source)

Actionability and Familial Uptake Following Opportunistic Genomic Screening in a Pediatric Cancer Cohort

Diness Birgitte, Sophia Hammer‐Hansen, Ulrik Kristoffer Stoltze, Emil D. Bartels et autres

dk (code pays fourni par la source)

Peptidylglycine α-Amidating Monooxygenase and Adrenomedullin Measurement in Patients with Hepatic Cirrhosis

Jens P. Goetze, Andrei Voiosu, Signe Wiese, Janin Schulte et autres

dk, ro, de (code pays fourni par la source)

Differential Expression of the β3 Subunit of Voltage-Gated Ca2+ Channel in Mesial Temporal Lobe Epilepsy

Christina Kjær, Oana Palasca, Guido Barzaghi, Lasse K. Bak et autres

dk, de, ni (code pays fourni par la source)

Family screening in dilated cardiomyopathy-qualifying screening and need for follow-up

Christoffer Rasmus Vissing, Kurt Espersen, Helen Mills, Emil D. Bartels et autres

dk (code pays fourni par la source)

Family Screening in Dilated Cardiomyopathy

Christoffer Rasmus Vissing, Kiri Espersen, Helen Lamiokor Mills, Emil D. Bartels et autres

dk (code pays fourni par la source)

Peptidylglycine alpha-amidating monooxygenase and adrenomedullin measurements suggest cardio-circulatory dysfunction in advanced cirrhosis

Søren Møller, Andrei Voiosu, Signe Wiese, Janun Schulte et autres