Concepedia

Kathrin Rommel

KR

Statistics

Publications

6

Citations

613

H-Index

6

Active since

2002

Affiliations

Medizinische Hochschule Hannover(Current)

Kathrin Rommel is an author at Medizinische Hochschule Hannover specializing in genetics, medical genetics, and marfan syndrome genetics.

Publications per year

2002–2017

6

Publications

6

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

Sonia Pavan, Kathrin Rommel, María Elena Mateo Marquina et al. · PLoS ONE · 2017 · 217 citations · Full text

, , +11

<i>TGFBR1</i>and<i>TGFBR2</i>mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome

Krishna K. Singh, Kathrin Rommel, Anjali Mishra et al. · Human Mutation · 2006 · 199 citations

, , +13

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome

Kathrin Rommel, Matthias Karck, Axel Haverich et al. · Human Mutation · 2005 · 105 citations

, , +16

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 mutations

Kathrin Rommel, Matthias Karck, Axel Haverich et al. · Human Mutation · 2002 · 51 citations · Full text

, , +13

Prevalence of dural ectasia in 63 gene‐mutation‐positive patients with features of Marfan syndrome type 1 and Loeys‐Dietz syndrome and report of 22 novel <i>FBN1</i> mutations

Bahar Söylen, A Abuzainin, Kathrin Rommel et al. · Clinical Genetics · 2009 · 30 citations

, , +11

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