Concepedia

Hannelore Thiele

HT

Statistics

Publications

8

Citations

1.1K

H-Index

8

Active since

1992

Affiliations

Martin Luther University Halle-Wittenberg(Current)

Essen University Hospital

Otto-von-Guericke University Magdeburg

Baylor College of Medicine

Baylor Genetics

Hannelore Thiele is an author at Martin Luther University Halle-Wittenberg specializing in medicine, genetics, and chromatin.

Top concepts

Publications per year

1992–2005

8

Publications

8

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Cornelius F. Boerkoel, Hiroshi Takashima, Joy John et al. · Nature Genetics · 2002 · 325 citations

, , +7

Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

Ilse Wieland, Sibylle Jakubiczka, Petra Muschke et al. · The American Journal of Human Genetics · 2004 · 239 citations · Full text

, , +5

Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients

Uwe Lenk, R. Hanke, Hannelore Thiele et al. · Human Molecular Genetics · 1993 · 120 citations

, , +14

Duplication of Xq26.2-q27.1, includingSOX3, in a mother and daughter with short stature and dyslalia

Paweł Stankiewicz, Hannelore Thiele, Mike Schlicker et al. · American Journal of Medical Genetics Part A · 2005 · 118 citations

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype

Peggy Shelbourne, Robert Winqvist, E. Kunert et al. · Human Molecular Genetics · 1992 · 116 citations

1–5 of 8