Monika Weisz-Hubshman

Monika Weisz-Hubshman

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Monika Weisz-Hubshman

Monika Weisz-Hubshman

Publications by authors named "Monika Weisz-Hubshman"

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A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.

Eur J Paediatr Neurol 2018 May 30;22(3):516-524. Epub 2017 Dec 30.

Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; Raphael Recanati Genetics Institute, Rabin Medical Center- Beilinson Hospital, Petach Tikva 4941492, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva 4941492, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798173164
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http://dx.doi.org/10.1016/j.ejpn.2017.12.017DOI Listing
May 2018

Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones.

Blood Cells Mol Dis 2016 09 9;60:65-72. Epub 2015 May 9.

The Raphael Recanati Genetics Institute, Rabin Medical Center, Children's Medical Center of Israel, Petah Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Israel; Department of Pediatric Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

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http://dx.doi.org/10.1016/j.bcmd.2015.05.003DOI Listing
September 2016

Is one diagnosis the whole story? patients with double diagnoses.

Am J Med Genet A 2016 09 8;170(9):2338-48. Epub 2016 Jun 8.

The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.

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http://dx.doi.org/10.1002/ajmg.a.37799DOI Listing
September 2016

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.

J Hum Genet 2016 May 28;61(5):381-7. Epub 2016 Jan 28.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1038/jhg.2016.1DOI Listing
May 2016