Tatsuro Kondoh
Obayashi (Japan)(JP)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Corneal surgery and disorders, Liver Disease Diagnosis and Treatment, Connective tissue disorders research
Most-Cited Works
- → Haploinsufficiency of NSD1 causes Sotos syndrome(2002)655 cited
- → Kabuki make‐up (Niikawa‐Kuroki) syndrome: A study of 62 patients(1988)453 cited
- → Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells(2009)228 cited
- → Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion(2003)137 cited
- → Molecular characterization of inv dup del(8p): Analysis of five cases(2004)132 cited
- → Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia(2005)131 cited
- → Spontaneous In Vivo Reversion of an Inherited Mutation in the Wiskott-Aldrich Syndrome(2001)110 cited
- → Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan(2019)80 cited
- → Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan‐related phenotypes(2006)75 cited
- → Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome(2013)68 cited