Jürgen Kohlhase
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Renal and related cancers, Genomic variations and chromosomal abnormalities, Skin and Cellular Biology Research, Bone health and treatments
Most-Cited Works
- → Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes(2010)506 cited
- → Thalassemia Syndromes(2009)475 cited
- → Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly(2012)215 cited
- → Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification(2005)213 cited
- → Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes(2015)209 cited
- → Expanding the phenotypic spectrum of lupus erythematosus in Aicardi‐Goutières syndrome(2010)209 cited
- → Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy(2003)188 cited
- → Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome(1999)157 cited
- → Next-generation sequencing in X-linked intellectual disability(2015)149 cited
- → Isolation, Characterization, and Organ-Specific Expression of Two Novel Human Zinc Finger Genes Related to theDrosophilaGenespalt(1996)144 cited