Publications by authors named "Maja Sukalo"

15Publications

Adams-Oliver syndrome caused by mutations of the EOGT gene.

Am J Med Genet A 2019 11 31;179(11):2246-2251. Epub 2019 Jul 31.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61313DOI Listing
November 2019

Oblique facial clefts in Johanson-Blizzard syndrome.

Am J Med Genet A 2016 06 17;170(6):1495-501. Epub 2016 Mar 17.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37630DOI Listing
June 2016

Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.

Gene 2015 Oct 3;570(1):153-5. Epub 2015 Jul 3.

Department of Pediatric Gastroenterology, Hepatology and Nutrition, School of Medicine, Ege University, Izmir, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S03781119150080
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http://dx.doi.org/10.1016/j.gene.2015.06.082DOI Listing
October 2015

Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype.

Indian J Gastroenterol 2014 Jan 20;33(1):82-4. Epub 2013 Sep 20.

Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, New Delhi, 110 002, India.

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http://link.springer.com/10.1007/s12664-013-0391-5
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http://dx.doi.org/10.1007/s12664-013-0391-5DOI Listing
January 2014

Johanson-blizzard syndrome.

Indian Pediatr 2013 May;50(5):510-2

Department of Genetic Medicine, Deenanath Mangeshkar Hospital and Research Center, Erandawane, Pune, India.

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May 2013

Clinical utility gene card for: Johanson-Blizzard syndrome.

Eur J Hum Genet 2014 Jan 8;22(1). Epub 2013 May 8.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1038/ejhg.2013.65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865401PMC
January 2014

Johanson-Blizzard syndrome.

World J Gastroenterol 2011 Oct;17(37):4247-50

Department of Pediatric, Al-Thawra Teaching Hospital, 25122 Sana`a, Yemen.

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http://dx.doi.org/10.3748/wjg.v17.i37.4247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208372PMC
October 2011