Keren Machol

Keren Machol

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Keren Machol

Keren Machol

Publications by authors named "Keren Machol"

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11Publications

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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma.

Neurol Genet 2018 Aug 20;4(4):e248. Epub 2018 Jul 20.

Department of Molecular and Human Genetics (K.M., L.C.B., M.J., R.A.L., M.X., J.A.R., R.C., C.M.E., Y.Y., B.H.L., P.M.M., S.U.D.), Department of Neurology (J.J., D.V., P.M.M), and Department of Ophthalmology (R.A.L.), Baylor College of Medicine; Department of Pathology (G.N.F.), Department of Neuro-Oncology (M.P.-P.), and Department of Diagnostic Imaging (M.K.G.-M.), The University of Texas MD Anderson Cancer Center; Michael E. DeBakey VA Medical Center (P.M.M.); Baylor Genetics (C.M.E., Y.Y.); and Department of Medicine (S.U.D.), Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1212/NXG.0000000000000248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055357PMC
August 2018

Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.

Am J Med Genet A 2016 10 20;170(10):2711-8. Epub 2016 Jun 20.

Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.

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http://dx.doi.org/10.1002/ajmg.a.37809DOI Listing
October 2016

Behçet's disease and cerebral sinus vein thrombosis in children: a case study and review of the literature.

Clin Exp Rheumatol 2015 Nov-Dec;33(6 Suppl 94):S163-8. Epub 2015 Oct 20.

Department of Paediatrics, Hadassah-Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.

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January 2016

Keeping the heart in mind when managing hemolytic: uremic syndrome.

Isr Med Assoc J 2011 Jul;13(7):446-7

Department of Pediatric Critical Care Medicine, Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, affiliated with Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.

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July 2011

The proto-oncogene ERG in megakaryoblastic leukemias.

Cancer Res 2005 Sep;65(17):7596-602

Department of Pediatric Hematology-Oncology, Safra Children's Hospital and Hematology Institute, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1158/0008-5472.CAN-05-0147DOI Listing
September 2005