Publications by authors named "Hormos Salimi Dafsari"

10Publications

Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.

Am J Med Genet A 2020 Nov 5. Epub 2020 Nov 5.

Faculty of Medicine and the Faculty of Mathematics and Natural Sciences, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.

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November 2020

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.

J Hum Genet 2020 Nov 12;65(11):1003-1017. Epub 2020 Aug 12.

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, Center for Molecular Medicine Cologne (CMMC), Center for Rare Diseases, University of Cologne, Cologne, Germany.

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November 2020

Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy.

Acta Neuropathol Commun 2019 12 18;7(1):211. Epub 2019 Dec 18.

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937, Cologne, Germany.

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December 2019

Novel mutations in with benign course in hyperekplexia.

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany.

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December 2019

Deficient body structural description contributes to apraxic end-position errors in imitation.

Neuropsychologia 2019 10 29;133:107150. Epub 2019 Jul 29.

Cognitive Neuroscience, Institute of Neuroscience and Medicine (INM-3), Research Center Jülich, Leo-Brandt-Str. 5, 52425, Jülich, Germany; Department of Neurology, Faculty of Medicine and University Hospital Cologne, >University of Cologne,, Kerpener Str. 62, 50937, Cologne, Germany. Electronic address:

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October 2019

Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features.

Mol Cell Probes 2019 06 15;45:89-93. Epub 2019 Mar 15.

University of Cologne, Medical Faculty and University Hospital, Department of Pediatrics, Division of Pediatric Neurology, Germany; University of Cologne, Medical Faculty, Center for Molecular Medicine Cologne (CMMC), Germany. Electronic address:

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June 2019

A multi-centre student survey on weighing disciplines in medical curricula - a pilot study.

GMS J Med Educ 2017 15;34(2):Doc24. Epub 2017 May 15.

University of Cologne, Centre of Pharmacology, Cologne, Germany.

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May 2018

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

Am J Med Genet A 2015 Jun 2;167(6):1300-4. Epub 2015 Apr 2.

Department of Paediatric Neurology, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.

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June 2015