Publications by authors named "Ronit Marom"

19Publications

Osteogenesis imperfecta: an update on clinical features and therapies.

Eur J Endocrinol 2020 Oct;183(4):R95-106

Department of Orthopaedic Surgery, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

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http://dx.doi.org/10.1530/EJE-20-0299DOI Listing
October 2020

A Somnolent Neonate With Hypothermia and Posturing.

Clin Pediatr (Phila) 2020 Jul 13;59(8):841-843. Epub 2020 May 13.

Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1177/0009922820920018DOI Listing
July 2020

Osteogenesis imperfecta: advancements in genetics and treatment.

Curr Opin Pediatr 2019 12;31(6):708-715

Department of Molecular and Human Genetics, Baylor College of Medicine.

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http://dx.doi.org/10.1097/MOP.0000000000000813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017716PMC
December 2019

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Mitochondrion 2019 01 4;44:58-64. Epub 2018 Jan 4.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA.

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http://dx.doi.org/10.1016/j.mito.2018.01.001DOI Listing
January 2019

Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.

Am J Med Genet A 2017 Oct 16;173(10):2789-2794. Epub 2017 Aug 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.38383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603416PMC
October 2017

Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

Mol Genet Metab 2017 09 29;122(1-2):60-66. Epub 2017 Jun 29.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Texas Children's Hospital, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612879PMC
September 2017

Pharmacological and biological therapeutic strategies for osteogenesis imperfecta.

Am J Med Genet C Semin Med Genet 2016 12 3;172(4):367-383. Epub 2016 Nov 3.

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http://dx.doi.org/10.1002/ajmg.c.31532DOI Listing
December 2016

Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing.

Curr Opin Pediatr 2016 12;28(6):694-699

Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA.

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http://pdfs.journals.lww.com/co-pediatrics/2016/12000/Newbor
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http://dx.doi.org/10.1097/MOP.0000000000000414DOI Listing
December 2016

Unintentional oral beta agonist overdose: case report and review of the literature.

Am J Ther 2013 May-Jun;20(3):311-4

Division of Pediatric Emergency Medicine, Department of Pediatrics, Dana's Children Hospital, University of Tel Aviv, Tel Aviv, Israel.

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http://dx.doi.org/10.1097/MJT.0b013e3182002f2dDOI Listing
October 2013