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Kathrin Rommel

Showing results (1-10 of 8) with videos related to

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Journal of Community Genetics|November 24, 2011
Funding of rare disease research in Germany: a pilot studyMartin Reinecke, Kathrin Rommel, Jörg Schmidtke
Human Mutation|October 29, 2002
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutationsKathrin Rommel, Matthias Karck, Axel Haverich, et al.
Genes|April 23, 2022
PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene PanelsJörg Schmidtke, Peter Philipp, Kathrin Rommel, et al.
European Journal of Human Genetics : EJHG|April 18, 2006
Sequence variations in the 5' upstream regions of the FBN1 gene associated with Marfan syndromeKrishna Kumar Singh, Praphulla Chandra Shukla, Kathrin Rommel, et al.
Plos One|January 19, 2017
Clinical Practice Guidelines for Rare Diseases: The Orphanet DatabaseSonia Pavan, Kathrin Rommel, María Elena Mateo Marquina, et al.
Human Mutation|June 27, 2006
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndromeKrishna Kumar Singh, Kathrin Rommel, Anjali Mishra, et al.
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz|October 14, 2022
[Uncovering rare diseases in medical data-coding]Tamara Martin, Kathrin Rommel, Carina Thomas, et al.
Human Mutation|October 13, 2005
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndromeKathrin Rommel, Matthias Karck, Axel Haverich, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Journal of Community Genetics|November 24, 2011
Funding of rare disease research in Germany: a pilot studyMartin Reinecke, Kathrin Rommel, Jörg Schmidtke
Human Mutation|October 29, 2002
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutationsKathrin Rommel, Matthias Karck, Axel Haverich, et al.
Genes|April 23, 2022
PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene PanelsJörg Schmidtke, Peter Philipp, Kathrin Rommel, et al.
European Journal of Human Genetics : EJHG|April 18, 2006
Sequence variations in the 5' upstream regions of the FBN1 gene associated with Marfan syndromeKrishna Kumar Singh, Praphulla Chandra Shukla, Kathrin Rommel, et al.
Plos One|January 19, 2017
Clinical Practice Guidelines for Rare Diseases: The Orphanet DatabaseSonia Pavan, Kathrin Rommel, María Elena Mateo Marquina, et al.
Human Mutation|June 27, 2006
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndromeKrishna Kumar Singh, Kathrin Rommel, Anjali Mishra, et al.
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz|October 14, 2022
[Uncovering rare diseases in medical data-coding]Tamara Martin, Kathrin Rommel, Carina Thomas, et al.
Human Mutation|October 13, 2005
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndromeKathrin Rommel, Matthias Karck, Axel Haverich, et al.
Pageof 1