Publications by authors named "Khaled R Gaber"

10Publications

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.

BMC Med Genomics 2020 05 13;13(1):68. Epub 2020 May 13.

Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.

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http://dx.doi.org/10.1186/s12920-020-0714-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218834PMC
May 2020

Association between biomarkers of vitamin B12 status and the risk of neural tube defects.

J Obstet Gynaecol Res 2018 Oct 25;44(10):1902-1908. Epub 2018 Jul 25.

Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1111/jog.13751DOI Listing
October 2018

Expanding the mutation and clinical spectrum of Roberts syndrome.

Congenit Anom (Kyoto) 2016 Jul;56(4):154-62

Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1111/cga.12151DOI Listing
July 2016

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.

Am J Med Genet A 2015 May 10;167A(5):1089-99. Epub 2015 Mar 10.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.37010DOI Listing
May 2015

Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs).

Gene 2012 Nov 17;509(1):120-3. Epub 2012 Aug 17.

Department of Medical Molecular Genetics, National Research Center, Cairo, Egypt.

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http://dx.doi.org/10.1016/j.gene.2012.07.085DOI Listing
November 2012

Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.

Am J Med Genet A 2012 Aug 11;158A(8):1823-31. Epub 2012 Jul 11.

Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.35480DOI Listing
August 2012

Sensitivity of DCSR3/GAPDH ratio using quantitative real-time PCR in the rapid prenatal diagnosis for down syndrome.

Fetal Diagn Ther 2009 8;25(2):220-3. Epub 2009 May 8.

Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genomic Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1159/000218031DOI Listing
November 2009

Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

Am J Med Genet A 2008 Nov;146A(22):2929-36

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.32549DOI Listing
November 2008

Maternal vitamin B12 and the risk of fetal neural tube defects in Egyptian patients.

Clin Lab 2007 ;53(1-2):69-75

Prenatal Diagnosis and Fetal Medicine Department, National Research Centre, Cairo, Egypt.

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March 2007