E. Latta

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

C. T. R. M. Schrander‐Stumpel, Peter Meinecke, Golder N. Wilson et al. · European Journal of Pediatrics · 1994 · 119 citations

Life Sciences, Genetics, Molecular Genetics +4

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

Stefanie Beck‐Wödl, K. Harzer, Marc Sturm et al. · Acta Neuropathologica Communications · 2018 · 53 citations · Full text

Medicine, Neurology, Pathology +16

Trisomy of the short arm of chromosome 17

E. Latta, J. J. Hoo · Human Genetics · 1974 · 35 citations

Life Sciences, Genetics, Molecular Genetics +14

Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entireNF1 gene as verified by FISH: Further evidence for a contiguous gene syndrome in 17q11.2

Berthold Streubel, E. Latta, Hildegard Kehrer‐Sawatzki et al. · American Journal of Medical Genetics · 1999 · 22 citations

Life Sciences, Genetics, Molecular Genetics +17

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

C. Schrander-Stumpel, Peter Meinecke, Golder N. Wilson et al. · European Journal of Pediatrics · 1994 · 11 citations

Life Sciences, Genetics, Molecular Genetics +4