Chromosome Disorders Concept

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