Laura Konczal

Laura Konczal

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Laura Konczal

Laura Konczal

Publications by authors named "Laura Konczal"

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8Publications

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Life-threatening presentations of propionic acidemia due to the Amish founder variant.

Mol Genet Metab Rep 2019 Dec 6;21:100537. Epub 2019 Nov 6.

Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895572PMC
December 2019

Challenges in the diagnosis and management of disorders of sex development.

Birth Defects Res C Embryo Today 2016 Dec;108(4):293-308

Katherine Kutney, Beth Kaminski, and Naveen Uli are from the Division of Pediatric Endocrinology & Diabetes, University Hospitals/Rainbow Babies & Children's Hospital, Cleveland, Ohio.

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http://dx.doi.org/10.1002/bdrc.21147DOI Listing
December 2016

The perils of SNP microarray testing: uncovering unexpected consanguinity.

Pediatr Neurol 2013 Jul;49(1):50-3

Child Health Evaluation and Research (CHEAR) Unit, Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3703098PMC
July 2013

Germline mosaicism in Cornelia de Lange syndrome.

Am J Med Genet A 2012 Jun 11;158A(6):1481-5. Epub 2012 May 11.

Department of Genetics and Center for Human Genetics, University Hospitals of Cleveland, Case Medical Center, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.35381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356507PMC
June 2012

Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review.

J Pediatr 2012 Apr 1;160(4):645-650.e2. Epub 2011 Nov 1.

Center for Human Genetics, University Hospitals Case Medical Center and the Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, OH, USA.

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http://dx.doi.org/10.1016/j.jpeds.2011.09.021DOI Listing
April 2012

Acute dilated cardiomyopathy in a patient with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase.

Pediatr Cardiol 2009 May 16;30(4):523-6. Epub 2008 Dec 16.

Department of Pediatrics, Nationwide Children's Hospital Heart Center, Columbus, OH 43205-2696, USA.

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http://dx.doi.org/10.1007/s00246-008-9351-8DOI Listing
May 2009