Publications by authors named "Adi Mory"

26Publications

In Silico Structural and Biochemical Functional Analysis of a Novel Pathogenic Variant.

Int J Mol Sci 2020 Aug 14;21(16). Epub 2020 Aug 14.

Pediatric Endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam Healthcare Campus, Haifa 352540, Israel.

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http://dx.doi.org/10.3390/ijms21165857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7461554PMC
August 2020

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.

Eur J Med Genet 2020 Feb 25;63(2):103643. Epub 2019 Mar 25.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183059
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http://dx.doi.org/10.1016/j.ejmg.2019.03.007DOI Listing
February 2020

Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt.

Rambam Maimonides Med J 2018 Jul 30;9(3). Epub 2018 Jul 30.

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

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http://dx.doi.org/10.5041/RMMJ.10341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115477PMC
July 2018

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.

Am J Hum Genet 2016 Nov 20;99(5):1172-1180. Epub 2016 Oct 20.

The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525433, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097939PMC
November 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

A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.

Lymphat Res Biol 2015 Jun 2;13(2):107-11. Epub 2015 Jun 2.

1 Institute of Human Genetics , Rambam Health Care Campus, Haifa, Israel .

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http://dx.doi.org/10.1089/lrb.2014.0044DOI Listing
June 2015

Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.

Pediatr Neurol 2014 Apr 7;50(4):421-6. Epub 2014 Jan 7.

Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.006DOI Listing
April 2014

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study.

Eur J Hum Genet 2014 Feb 27;22(2):277-9. Epub 2013 Nov 27.

1] Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel [2] The Ruth and Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1038/ejhg.2013.281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895656PMC
February 2014

A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.

Eur J Hum Genet 2014 Mar 24;22(3):419-22. Epub 2013 Jul 24.

1] Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel [2] The Ruth and Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1038/ejhg.2013.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925280PMC
March 2014

Duplication in CHIT1 gene and the risk for Aspergillus lung disease in CF patients.

Pediatr Pulmonol 2014 Jan 28;49(1):21-7. Epub 2013 Jan 28.

Pediatric Pulmonary Unit, Meyer Children's Hospital, Rambam Health Care Campus, The Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1002/ppul.22749DOI Listing
January 2014

Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature.

J Clin Immunol 2010 Mar 23;30(2):308-13. Epub 2010 Jan 23.

Kipper Institute of Allergy and Immunology, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.

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http://dx.doi.org/10.1007/s10875-009-9354-0DOI Listing
March 2010