Martin G Bialer

Martin G Bialer

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Martin G Bialer

Martin G Bialer

Publications by authors named "Martin G Bialer"

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

Prenatal sonographic findings in a case of Wolman's disease.

J Clin Ultrasound 2018 Jan 4;46(1):66-68. Epub 2017 Apr 4.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Hofstra Northwell School of Medicine, North Shore University Hospital, Manhasset, NY.

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http://dx.doi.org/10.1002/jcu.22481DOI Listing
January 2018

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.

J Hepatol 2013 Jun 26;58(6):1230-43. Epub 2013 Feb 26.

Division of Medical Genetics, North Shore-Long Island Jewish Health System, 1554 Northern Boulevard, Suite 204, Manhasset, NY 11030, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S01688278130013
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http://dx.doi.org/10.1016/j.jhep.2013.02.014DOI Listing
June 2013

Duane syndrome in association with 48,XXYY karyotype.

J AAPOS 2011 Jun 15;15(3):295-6. Epub 2011 Jun 15.

Department of Ophthalmology, North Shore-Long Island Jewish Health System, New Hyde Park, NY, USA.

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http://dx.doi.org/10.1016/j.jaapos.2011.03.007DOI Listing
June 2011

Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients.

Mol Genet Metab 2010 Oct-Nov;101(2-3):130-3. Epub 2010 Jun 22.

Division of Medical Genetics, North Shore-Long Island Jewish Health System, 1554 Northern Boulevard, Suite 204, Manhasset, NY 11030, United States.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.003DOI Listing
January 2011