-J Kohlhase Researcher Activity Profile

Research Author Detailed Information 

J Kohlhase Publication Rate By Year

J Kohlhase has published 7 paper(s) in 2007, 1 paper(s) in 2008, for a total of 8 research publications in total.

J J Kohlhase Author Information

LAST NAME: kohlhase

FIRST NAME: J

INITIALS: j

AFFILIATION:

Papers

J Kohlhase's Publication Record

1. Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. Year Published: 2007
Department of Neurology, Mayo Clinic, Jacksonville, Florida, U.S.A..
2. Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. Year Published: 2007
Department of Neurology, University Medical Center Freiburg, Germany.
3. Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? Year Published: 2007
National Centre for Medical genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland. willie.reardon@olhsc.ie
4. Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. Year Published: 2007
Department of Medical Genetics, University of Turku, Turku, Finland.
5. Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. Year Published: 2007
Department of Medical Genetics, University of Turku, Turku, Finland.
6. Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? Year Published: 2007
National Centre for Medical genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland. willie.reardon@olhsc.ie
7. Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. Year Published: 2007
Department of Medical Genetics, University of Turku, Turku, Finland.
8. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Year Published: 2008
Institute of Human Genetics, University of Freiburg, Freiburg, D-79106 Freiburg, Germany.