Publications by authors named "Zineb Ammous"

6Publications

Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry.

J Chromatogr B Analyt Technol Biomed Life Sci 2019 Oct 5;1128:121786. Epub 2019 Sep 5.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, United States of America. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jchromb.2019.121786DOI Listing
October 2019

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Am J Hum Genet 2018 11 25;103(5):794-807. Epub 2018 Oct 25.

National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218603PMC
November 2018

PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis.

Ann Pediatr Cardiol 2015 May-Aug;8(2):153-6

Department of Medical Genetics, Miami Children's Hospital, Miami, Florida, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0974-2069.154149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4453188PMC
June 2015

Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.

Am J Med Genet A 2012 Nov 14;158A(11):2935-40. Epub 2012 Sep 14.

College of Medicine, University of Oklahoma, Oklahoma City, Oklahoma, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35613DOI Listing
November 2012