Maher Shahrour

Maher Shahrour

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Maher Shahrour

Maher Shahrour

Publications by authors named "Maher Shahrour"

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Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features.

Neurogenetics 2019 Oct 2;20(4):209-213. Epub 2019 Aug 2.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, POB 12000, 9112001, Jerusalem, Israel.

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http://link.springer.com/10.1007/s10048-019-00583-4
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http://dx.doi.org/10.1007/s10048-019-00583-4DOI Listing
October 2019

Mitochondrial peptidase loss-of-function in childhood cerebellar atrophy.

J Med Genet 2018 09 15;55(9):599-606. Epub 2018 May 15.

Department of Pediatrics, Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University-Hadassah School of Medicine, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2018-105330DOI Listing
September 2018

Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.

Eur J Hum Genet 2017 10 2;25(10):1142-1146. Epub 2017 Aug 2.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/ejhg.2017.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602013PMC
October 2017

Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.

Neurogenetics 2017 Jul 10;18(3):135-139. Epub 2017 May 10.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10048-017-0515-7DOI Listing
July 2017

Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Neurogenetics 2017 04;18(2):119

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10048-017-0511-yDOI Listing
April 2017

Using media to impact health policy-making: an integrative systematic review.

Implement Sci 2017 04 18;12(1):52. Epub 2017 Apr 18.

Center for Systematic Review for Health Policy and Systems Research, American University of Beirut, Beirut, Lebanon.

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http://dx.doi.org/10.1186/s13012-017-0581-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395744PMC
April 2017

Mutations in the phosphatidylinositol glycan C () gene are associated with epilepsy and intellectual disability.

J Med Genet 2017 03 30;54(3):196-201. Epub 2016 Sep 30.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2016-104202DOI Listing
March 2017

PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Neurogenetics 2016 10 13;17(4):227-232. Epub 2016 Sep 13.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10048-016-0493-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096377PMC
October 2016