Hiba Risheg

Hiba Risheg

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Hiba Risheg

Hiba Risheg

Publications by authors named "Hiba Risheg"

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14Publications

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Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion.

J Clin Res Pediatr Endocrinol 2017 12 17;9(4):380-386. Epub 2017 Jul 17.

University of California, Department of Pediatrics, Division of Genetics and Genomic Medicine, Irvine, California, USA.

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http://dx.doi.org/10.4274/jcrpe.4456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785648PMC
December 2017

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

Am J Med Genet A 2017 Jul 2;173(7):1848-1857. Epub 2017 May 2.

Department of Pathology, University of Washington School of Medicine, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38254DOI Listing
July 2017

Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay.

Am J Med Genet A 2015 Apr 3;167A(4):695-700. Epub 2015 Mar 3.

Indiana University School of Medicine-Northwest, Genetics Center, Gary, Indiana.

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http://doi.wiley.com/10.1002/ajmg.a.36956
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http://dx.doi.org/10.1002/ajmg.a.36956DOI Listing
April 2015

Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects.

Am J Med Genet A 2013 Jul 21;161A(7):1755-8. Epub 2013 May 21.

Department of Cytogenetics, Laboratory Corporation of America/Dynacare, Seattle, WA 98122, USA.

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http://dx.doi.org/10.1002/ajmg.a.35965DOI Listing
July 2013

Clinical comparison of overlapping deletions of 19p13.3.

Am J Med Genet A 2013 May;161A(5):1110-6

Laboratory Corporation of America/Dynacare, Department of Cytogenetics, Seattle, WA 98122, USA.

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http://dx.doi.org/10.1002/ajmg.a.35923DOI Listing
May 2013

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.

Am J Med Genet A 2013 Apr 12;161A(4):822-8. Epub 2013 Mar 12.

Department of Cytogenetics, Laboratory Corporation of America, Center for Molecular Biology and Pathology, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1002/ajmg.a.35699DOI Listing
April 2013

UPD detection using homozygosity profiling with a SNP genotyping microarray.

Am J Med Genet A 2011 Apr 15;155A(4):757-68. Epub 2011 Mar 15.

Laboratory Corporation of Cytogenetics Triangle Park, North Carolina, USA.

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http://dx.doi.org/10.1002/ajmg.a.33939DOI Listing
April 2011

Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.

J Pediatr Gastroenterol Nutr 2006 Jul;43 Suppl 1:S36-40

Department of Medicine, Liver Center, University of Alabama at Birmingham, 35294-0005, USA.

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http://dx.doi.org/10.1097/01.mpg.0000226388.56612.faDOI Listing
July 2006

Molecular studies of liver disease in erythropoietic protoporphyria.

J Clin Gastroenterol 2005 Apr;39(4 Suppl 2):S167-75

Liver Center, Departments of Medicine and Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0005, USA.

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http://dx.doi.org/10.1097/01.mcg.0000155518.96629.eaDOI Listing
April 2005

Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria.

Mol Genet Metab 2003 Sep-Oct;80(1-2):196-206

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://dx.doi.org/10.1016/j.ymgme.2003.07.001DOI Listing
November 2004

Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease.

Cell Mol Biol (Noisy-le-grand) 2002 Feb;48(1):83-9

Liver Center, University of Alabama at Birmingham, 35294, USA.

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February 2002