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author = "Hoehn, Holger"
1

Found 5 documents, displaying page 1 of 1

Human chromosome methodology

Author(s) : Hoehn, Holger
Description :
Repository : Europe PubMed Central
Language(s) : English

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

Author(s) : Gruhn Bernd , Seidel Joerg , Zintl Felix , Varon Raymonda , Tönnies Holger , Neitzel Heidemarie , Bechtold Astrid , Hoehn Holger
Description :

Abstract

Background

DNA Ligase IV deficiency syndrome is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV gene (LIG4). The clinical phenotype shows overlap with a number of other rare syndromes, including Seckel syndrome, Nijmegen bre...

Repository : DOAJ-Articles
Language(s) : English

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

Author(s) : Gruhn, Bernd , Seidel, Joerg , Zintl, Felix , Varon, Raymonda , Tönnies, Holger , Neitzel, Heidemarie , Bechtold, Astrid
Description :
Repository : Europe PubMed Central
Language(s) : English

Linkage Disequilibrium and Haplotype Studies of Chromosome 8p 11.1-21.1 Markers and Werner Syndrome

Author(s) : Yu, Chang-En , Oshima, Junko , Goddard, Katrina A. B. , Miki, Tetsuro , Nakura, Jun , Ogihara, Toshio , Poot, Martin , Hoehn, Holger
Description : Werner syndrome (WS) is an autosomal recessive disorder, characterized as a progeroid syndrome, previously mapped to the 8p 11.1-21.1 region. Because WS is so rare, and because many patients are from consanguineous marriages, fine localization of the gene by traditional meiotic mapping methods is un...
Repository : Europe PubMed Central
Language(s) : English

Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype

Author(s) : Kalb, Reinhard , Neveling, Kornelia , Hoehn, Holger , Schneider, Hildegard , Linka, Yvonne , Batish, Sat Dev , Hunt, Curtis
Description : FANCD2 is an evolutionarily conserved Fanconi anemia (FA) gene that plays a key role in DNA double-strand–type damage responses. Using complementation assays and immunoblotting, a consortium of American and European groups assigned 29 patients with FA from 23 families and 4 additional unrelated pati...
Repository : Europe PubMed Central
Language(s) : English
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Found 5 documents, displaying page 1 of 1