Chromosome Disorders
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Overview
subject area of
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46,XX/46,XX,r (2)(p25q37) mosaicism: clinical and cytogenetic studies. Academic Article
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A UV-specific endonucleolytic activity present in human cell extracts Academic Article
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A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A comparison of different designs Academic Article
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A systematic review of genetic syndromes with obesity Academic Article
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An inherited pericentric chromosomal inversion (46, inv3 [p-q+]) associated with skeletal anomalies Academic Article
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Can Preference Scores for Discrete States Be Used to Derive Preference Scores for an Entire Path of Events? Academic Article
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Characterization of the Supernumerary Chromosome in Cat Eye Syndrome Academic Article
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Chromosome Abnormalities in Chronic Myeloid Leukaemia Academic Article
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Chromosome studies at the paediatric necropsy Academic Article
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Cytogenetic studies: an essential part of the paediatric necropsy. Academic Article
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Cytogenetic survey of a hospital for the mentally retarded Academic Article
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Decision Analysis of Prenatal Testing for Chromosomal Disorders: What Do the Preferences of Pregnant Women Tell Us? Academic Article
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DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review. Academic Article
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Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants Academic Article
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Genetic analysis of the maternal factors controlling the survival of trisomy 16 mouse fetuses Academic Article
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Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis Academic Article
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Implication of Abnormal Human Trophoblast Karyotype for the Evidence-Based Approach to the Understanding, Investigation, and Treatment of Recurrent Spontaneous Abortion Academic Article
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Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial Academic Article
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Issues in the etiology of recurrent spontaneous abortion Academic Article
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Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes. Academic Article
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Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism Academic Article
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OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome Academic Article
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Partial monosomy 1q43 and partial trisomy 20q13.2: a case report Academic Article
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Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance Academic Article
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Preimplantation Genetic Screening in Older Mothers Academic Article
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Prenatal Diagnosis of Genetic Disorders: Trials and Tribulations Academic Article
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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Academic Article
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Report of the first patient with a homozygous
OTUD7A
variant responsible for epileptic encephalopathy and related proteasome dysfunction Academic Article
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Ring chromosome 22 and autism: Report and review Academic Article
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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females Academic Article
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The Lyon hypothesis Academic Article
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The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome Academic Article
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The usefulness of chromosome banding in pre- and postnatal service cytogenetics: A reconsideration Academic Article
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Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature Academic Article
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Two Cases of Fibrocystic Breast Disease with Polysomy 18 as the Sole Clonal Cytogenetic Abnormality Academic Article
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Use of a DNA Method, QF-PCR, in the Prenatal Diagnosis of Fetal Aneuploidies Academic Article