Publications by authors named "Mariam Almureikhi"

10Publications

Further delineation of HIDEA syndrome.

Am J Med Genet A 2020 Dec 23;182(12):2999-3006. Epub 2020 Sep 23.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.61885DOI Listing
December 2020

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

Am J Hum Genet 2017 Sep 17;101(3):441-450. Epub 2017 Aug 17.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590949PMC
September 2017

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Eur J Med Genet 2017 May 27;60(5):245-249. Epub 2017 Feb 27.

Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Qatar. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569911PMC
May 2017

Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder.

Am J Med Genet A 2014 Sep 26;164A(9):2147-52. Epub 2014 Jun 26.

Department of Pediatrics, Section of Clinical and Metabolic Genetics, Hamad Medical Corporation, Doha, Qatar.

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http://doi.wiley.com/10.1002/ajmg.a.36632
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http://dx.doi.org/10.1002/ajmg.a.36632DOI Listing
September 2014

Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

Am J Med Genet A 2011 Nov 30;155A(11):2647-53. Epub 2011 Sep 30.

Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.

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http://doi.wiley.com/10.1002/ajmg.a.34219
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http://dx.doi.org/10.1002/ajmg.a.34219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6905109PMC
November 2011

Further delineation of the Van den Ende-Gupta syndrome.

Am J Med Genet A 2010 Dec;152A(12):3095-100

Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.

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http://dx.doi.org/10.1002/ajmg.a.33725DOI Listing
December 2010