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Subject Areas on Research
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A case of atypical, complete DiGeorge syndrome without 22q11 mutation.
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A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.
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A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.
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American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.
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An ultrastructural investigation of an early manifestation of the posterior polymorphous dystrophy of the cornea.
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Association study of two interleukin-1 gene loci with essential hypertension in a Pakistani Pathan population.
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CT and MR imaging of Canavan disease.
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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.
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Classification of epilepsy syndromes and role of genetic factors.
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Constellation of congenital abnormalities in an infant: a new syndrome or tissue-specific mosaicism for trisomy 18?
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Detection and reporting of homozygosity associated with consanguinity in the clinical laboratory.
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Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.
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Familial spinocerebellar degeneration with corneal dystrophy.
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Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
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Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration.
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Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome.
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High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy.
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Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation.
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Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.
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Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
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Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.
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Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.
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Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.
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Long contiguous stretches of homozygosity in the human genome.
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Managing Lafora body disease with vagal nerve stimulation.
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Mild cystic fibrosis in a consanguineous family.
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Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.
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Modernization and consanguineous marriage in Beirut.
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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
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Mutations in the mu heavy-chain gene in patients with agammaglobulinemia.
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Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.
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Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
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Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut.
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Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A.
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Prenatal genetic diagnosis of Neu-Laxova syndrome.
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Quality of Life Outcomes in a Pediatric Thalassemia Population in Egypt.
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Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome.
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Response to Rosenberg et al.
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SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
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Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.
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Skin graft rejection between subjects genotyped for HL-A.
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Studies of viral antibody responses among Amish families.
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T lymphocyte ontogeny in adenosine deaminase-deficient severe combined immune deficiency after treatment with polyethylene glycol-modified adenosine deaminase.
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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
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The genetics of inbreeding depression.
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Keywords of People