Reinhard Keimer
Bethlehem, WBK, Palestine
Last Updated: 09/26/2026
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Found 8 publications
Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Journal: European journal of human genetics : EJHG
Published: May 29, 2021
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Journal: European journal of human genetics : EJHG
Published: June 04, 2019
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 14, 2018
A previously identified missense mutation in STYXL1 is likely benign.
Journal: European journal of medical genetics
Published: September 12, 2018
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.
Journal: Clinical genetics
Published: December 16, 2017
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Journal: Nature communications
Published: September 20, 2017
Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.
Journal: Seizure
Published: September 06, 2015
Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: May 26, 2015
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Last Updated: 09/26/2026