Get started
Author

Heide Seidel

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
2004 · Özge Altug Teber, Gabriele Gillessen-Kaesbach, et al. · European Journal of Human Genetics · 187
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
2007 · Martin Zenker, Denise Horn, et al. · Journal of Medical Genetics · 141
PDF
Clinical and Mutational Spectrum of Mowat–Wilson Syndrome
2005 · Christiane Zweier, Christian T Thiel, et al. · European Journal of Medical Genetics · 133
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
2016 · Karim Kouz, Christina Lissewski, et al. · Genetics in Medicine · 111
PDF
Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome
2007 · AL Schulz, B Albrecht, et al. · Clinical Genetics · 111
Microdeletion syndrome 16p11.2‐p12.2: Clinical and molecular characterization
2009 · Maja Hempel, Nuria Rivera Brugués, et al. · American Journal of Medical Genetics Part A · 110
Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy
2019 · Emanuel Kaltenecker, Julia Schleihauf, et al. · Cardiovascular Diagnosis and Therapy · 44
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D
2012 · Sybille Lorenz, Christine Petersen, et al. · European Journal of Medical Genetics · 33
Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome
2019 · Kristina Mühlstädt, Julie De Backer, et al. · Journal of Clinical Medicine · 30
PDF
Deletion mapping by FISH with BACs in patients with partial monosomy 22q13
1998 · K. Schr�der, Simone Schuffenhauer, et al. · Human Genetics · 30
DiGeorge syndrome and partial monosomy 10p: case report and review.
1995 · S Schuffenhauer, H Seidel, et al. · PubMed · 30
Clinical long-term outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in infants
2017 · Julia Schleihauf, Julie Cleuziou, et al. · European Journal of Cardio-Thoracic Surgery · 27
Aberrant splicing is a common mutational mechanism inMKS1, a key player in Meckel-Gruber syndrome
2007 · Valeska Frank, Nadina Ortiz Brüchle, et al. · Human Mutation · 26
PDF
Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes
2017 · Muhammad Umair, Heide Seidel, et al. · Journal of Genetics · 22
Cytological and cytogenetical studies on brain tumors: V. Preferential loss of sex chromosomes in human meningiomas
1975 · H. Zankl, Heide Seidel, et al. · Human Genetics · 22
Dural ectasia in Loeys–Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation
2013 · S. Sheikhzadeh, L. Brockstaedt, et al. · Clinical Genetics · 21
Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33)
1996 · E. Holinski-Feder, A. Golla, et al. · American Journal of Medical Genetics · 21
Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families
1993 · P. Steinbach, D. W�hrle, et al. · Human Genetics · 18
A Y/5 translocation in a 45,X male with cri du chat syndrome
1987 · Bernhard Weber, Werner Schempp, et al. · Human Genetics · 18
Marfan syndrome: what internists and pediatric or adult cardiologists need to know
2005 · Harald Kaemmerer, Erwin Oechslin, et al. · Expert Review of Cardiovascular Therapy · 14
Hemostatic abnormalities in adult patients with Marfan syndrome
2019 · Katharina T. I. Kornhuber, Heide Seidel, et al. · Cardiovascular Diagnosis and Therapy · 13
PDF
De novo interstitial deletion 16(q12. 1q13) of paternal origin in a 10‐year‐old boy
1992 · Simone Schuffenhauer, David F. Callen, et al. · Clinical Genetics · 13
45, X Constitution in a H‐Y antigen positive boy with partial monosomy 5p
1981 · H. Seidel, K. Miller, et al. · Clinical Genetics · 11
Sex-chromosome Loss in Human Tumours
1975 · H Zankl, Heide Seidel, et al. · The Lancet · 11
Early venous manifestation of Ehlers–Danlos syndrome Type IV through a novel mutation in COL3A1
2013 · Heiko Wendorff, Jaroslav Pelisek, et al. · Cardiovascular Pathology · 8
Works count: 31
Citation count: 1,210
H-index: 18
I10-index: 24
Year
Topic
Type