Chromosomal Abnormalities

Chromosome abnormalities can be classified as either structural or numerical. Numerical abnormalities include duplications or deletion of a pair of chromosomes, such as Down Syndrome. Structural abnormalities include missing, extra or switched parts of a chromosome. Discover the latest research on chromosomal abnormalities here.

August 1, 2020
Preprint

Differential neural encoding of sound under visual attention is shaped by audiovisual precision and unimodal uncertainty priors

BioRxiv : the Preprint Server for Biology
Francisco Cervantes ConstantinoA. Carboni
August 5, 2020

Tall stature in children and adolescents

Minerva pediatrica
Tatsuhiko Urakami
August 1, 2020

Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review

Journal of Pediatric Genetics
Chayada TangshewinsirikulDuangrurdee Wattanasirichaigoon
July 31, 2020

Loss of Heterozygosity and Base Mutation Rates Vary Among Saccharomyces cerevisiae Hybrid Strains

G3 : Genes - Genomes - Genetics
Ajith V PankajamKoodali T Nishant
August 2, 2020

Screening siRNAs against host glycosylation pathways to develop novel anti-viral agents against hepatitis B virus

Hepatology Research : the Official Journal of the Japan Society of Hepatology
Kiyoaki ItoHisashi Narimatsu
August 5, 2020

Cardiac axis evaluation as a screening method for detecting cardiac abnormalities in the first trimester of pregnancy

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie
Florina Nela OşvarFlorian Dorel Bodog
August 5, 2020

The diagnostic evaluation of tall stature in children

Nederlands tijdschrift voor geneeskunde
Peter LaufferGerdine A Kamp
August 5, 2020

Zernike monomials in wide field of view optical designs

Applied Optics
Tim P Johnson, J Sasian
August 5, 2020

Down feather morphology reflects adaptation to habitat and thermal conditions across the avian phylogeny

Evolution; International Journal of Organic Evolution
Péter L PapOrsolya Vincze
August 5, 2020

Wavefront coding with Jacobi-Fourier phase masks for retinal imaging

Applied Optics
Eva AcostaJusto Arines
August 1, 2020
Review
Open Access

Down Syndrome Is a Metabolic Disease: Altered Insulin Signaling Mediates Peripheral and Brain Dysfunctions

Frontiers in Neuroscience
Mara DierssenEugenio Barone
August 3, 2020

Mitochondrial oxygen consumption rate of human embryos declines with maternal age

Journal of Assisted Reproduction and Genetics
Naoharu MorimotoHiroaki Shibahara
July 31, 2020

Prevalence of Cholesteatoma in Children With Down Syndrome Receiving Treatment at Pediatric Health Care Facilities

JAMA Otolaryngology-- Head & Neck Surgery
Alycia SpinnerChristopher T Wootten
July 31, 2020
Open Access

Phosphorylated Aβ peptides in human Down syndrome brain and different Alzheimer's-like mouse models

Acta Neuropathologica Communications
Sathish KumarJochen Walter
August 5, 2020
Review

Systemic treatment options for advanced biliary tract carcinoma

Journal of Gastroenterology
Changqing XieJianyang Fu
August 2, 2020

Dose-response analysis of potassium bromate-induced toxicity in Allium cepa L. meristematic cells

Environmental Science and Pollution Research International
Gökçe ÖztürkEmine Yalçın

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