J. Seidel

Idiopathic Hyperphosphatasia and <i>TNFRSF11B</i> Mutations: Relationships Between Phenotype and Genotype

Belinda Chong, Madhuri Hegde, Matthew Fawkner et al. · Journal of Bone and Mineral Research · 2003 · 122 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

Hong‐Zhi Gao, Keiko Kobayashi, Ayako Tabata et al. · Human Mutation · 2003 · 84 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Bernd Gruhn, J. Seidel, F Zintl et al. · Orphanet Journal of Rare Diseases · 2007 · 79 citations · Full text

Life Sciences, Genetics, Hematology +17

Childhood overgrowth in patients with common NF1 microdeletions

Miriam Spiegel, Konrad Oexle, Denise Horn et al. · European Journal of Human Genetics · 2005 · 52 citations

Life Sciences, Genetics, Molecular Genetics +14

Location and type of mutation in the <i>LIS1</i> gene do not predict phenotypic severity

G. Uyanık, Déborah Morris-Rosendahl, J. Stiegler et al. · Neurology · 2007 · 46 citations

Life Sciences, Genetics, Molecular Genetics +17