Publications by authors named "Sahin Avci"

8Publications

An 8-month-old infant with hypercalcemia and hyperphosphatemia-Answers.

Pediatr Nephrol 2020 Jun 25. Epub 2020 Jun 25.

Division of Pediatric Endocrinology, Department of Pediatrics, Koç University School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s00467-020-04666-5DOI Listing
June 2020

An 8-month-old infant with hypercalcemia and hyperphosphatemia: Questions.

Pediatr Nephrol 2020 Jun 25. Epub 2020 Jun 25.

Division of Pediatric Endocrinology, Department of Pediatrics, Koç University School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s00467-020-04656-7DOI Listing
June 2020

Clinical exome sequencing in neuromuscular diseases: an experience from Turkey.

Neurol Sci 2020 Aug 5;41(8):2157-2164. Epub 2020 Mar 5.

Medical Genetics Department, Koç University School of Medicine (KUSoM), 34010, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s10072-020-04304-wDOI Listing
August 2020

Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum.

Fetal Pediatr Pathol 2019 Apr 2;38(2):127-137. Epub 2019 Jan 2.

a Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine , Istanbul University , Istanbul , Turkey.

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https://www.tandfonline.com/doi/full/10.1080/15513815.2018.1
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http://dx.doi.org/10.1080/15513815.2018.1556367DOI Listing
April 2019

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014