Karin Weiss

Karin Weiss

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Karin Weiss

Karin Weiss

Publications by authors named "Karin Weiss"

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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

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.

Am J Hum Genet 2019 05 18;104(5):990-993. Epub 2019 Apr 18.

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

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http://dx.doi.org/10.1016/j.ajhg.2019.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506867PMC
May 2019

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

Holoprosencephaly from conception to adulthood.

Am J Med Genet C Semin Med Genet 2018 06;178(2):122-127

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31624DOI Listing
June 2018

Refugees in Europe: national overviews from key countries with a special focus on child and adolescent mental health.

Eur Child Adolesc Psychiatry 2018 Apr;27(4):389-399

Centre for Child and Adolescent Mental Health and Child Protection, Institute of Psychiatry, Norwegian University of Science and Technology (NTNU), Klostergata 46, 7030, Trondheim, Norway.

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http://dx.doi.org/10.1007/s00787-017-1094-8DOI Listing
April 2018

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.

Congenit Anom (Kyoto) 2018 Jan 1;58(1):29-32. Epub 2017 Aug 1.

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

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http://dx.doi.org/10.1111/cga.12234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5750110PMC
January 2018

KCNQ1 Gene Variants in Large Asymptomatic Populations: Considerations for Genomic Screening of Military Cohorts.

Mil Med 2017 03;182(3):e1795-e1800

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, Room 1B207, Bethesda, MD 20894.

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http://dx.doi.org/10.7205/MILMED-D-16-00184DOI Listing
March 2017

Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.

Am J Med Genet A 2015 Nov 2;167A(11):2702-6. Epub 2015 Jul 2.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37210DOI Listing
November 2015

The clinical management of Type 2 Gaucher disease.

Mol Genet Metab 2015 Feb 14;114(2):110-122. Epub 2014 Nov 14.

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

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http://dx.doi.org/10.1016/j.ymgme.2014.11.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312716PMC
February 2015

Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.

Genet Med 2014 Dec 29;16(12):940-4. Epub 2014 May 29.

Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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http://www.nature.com/articles/gim201464
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http://dx.doi.org/10.1038/gim.2014.64DOI Listing
December 2014

How to evaluate the child presenting with an apparent life-threatening event?

Isr Med Assoc J 2010 Mar;12(3):154-7

Department of Pediatrics, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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March 2010

Congenital myopathies in Israeli families.

J Child Neurol 2007 Jun;22(6):732-6

Sourasky Medical Center, Tel-Aviv, Isreal.

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http://dx.doi.org/10.1177/0883073807304193DOI Listing
June 2007

The ampakine CX546 restores the prepulse inhibition and latent inhibition deficits in mGluR5-deficient mice.

Neuropsychopharmacology 2007 Apr 23;32(4):745-56. Epub 2006 Aug 23.

Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/sj.npp.1301191DOI Listing
April 2007

Non-classical Kawasaki disease in a 2 month old infant.

Isr Med Assoc J 2006 Aug;8(8):581-2

Department of Pediatrics, Assaf Harofeh Medical Center, Zerifin, Israel.

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August 2006

A genetic screen for mouse mutations with defects in serotonin responsiveness.

Brain Res Mol Brain Res 2003 Jul;115(2):162-72

Samuel Lunenfeld Research Institute, Mt. Sinai Hospital, 600 University Avenue, Toronto, Ontario, Canada M5G 1X5.

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http://dx.doi.org/10.1016/s0169-328x(03)00205-5DOI Listing
July 2003