T. Grimm

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle et al. · The American Journal of Human Genetics · 2008 · 331 citations · Full text

Life Sciences, Developmental Biology, Genetics +14

Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei.

Martina Guttenbach, Birgit Koschorz, Ulrike Bernthaler et al. · PubMed · 1995 · 216 citations

Life Sciences, Cell Biology, Genetics +16

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

Sabine Rudnik‐Schöneborn, Raoul Heller, C Berg et al. · Journal of Medical Genetics · 2008 · 196 citations

Medicine, Genetics, Molecular Genetics +17

PTHR1 Loss-of-Function Mutations in Familial, Nonsyndromic Primary Failure of Tooth Eruption

Eva L. Decker, Angelika Stellzig‐Eisenhauer, Britta Fiebig et al. · The American Journal of Human Genetics · 2008 · 179 citations · Full text

Dentistry, Oral Biology, Oral Diagnosis +10

Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

Jéfferson Becker, R. Schwaab, A. Möller-Taube et al. · PubMed · 1996 · 147 citations

Medicine, Genetics, Hematology +14