Results 101 to 110 of about 105,581 (338)

Laypeople's Views on the Narrative Identity and Societal Treatment of Genetically Modified People

open access: yesBioethics, EarlyView.
ABSTRACT Genome editing in human embryos could raise new ethical issues by changing future people's narrative and numerical identity. Most philosophers agree that some genetic modifications would have larger effects on identity than others, but they disagree on what criteria might explain these differences and have not supported their claims ...
Derek So, Yann Joly, Robert Sladek
wiley   +1 more source

Molecular and Clinicopathologic Characterization of AML With Isolated Trisomy 4 [PDF]

open access: bronze, 2012
Ashish Bains   +5 more
openalex   +1 more source

Optical genome mapping detects cryptic high‐risk and targetable abnormalities in adult AML

open access: yesBritish Journal of Haematology, EarlyView.
Summary Acute myeloid leukaemia (AML) risk stratification relies on cytogenetic and molecular abnormalities defined by European LeukemiaNet (ELN) 2022. Conventional cytogenetic techniques, including chromosomal banding analysis (CBA) and fluorescence in situ hybridization, have limited resolution and may miss cryptic events. Optical genome mapping (OGM)
Audrey Bidet   +10 more
wiley   +1 more source

VP32.13: Birth outcomes of babies with Trisomy 21 [PDF]

open access: bronze, 2020
Andrea Kaelin Agten   +2 more
openalex   +1 more source

DISTINGUISHING MITOTIC AND MEIOTIC ORIGIN OF TRISOMY IN TROPHECTODERM BIOPSIES WITHOUT PARENTAL DNA [PDF]

open access: bronze, 2023
Bhavini Rana   +4 more
openalex   +1 more source

Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions

open access: yesClinical Genetics, EarlyView.
Noninvasive prenatal diagnosis for monogenic diseases (NIPD‐M) to detect inherited mutations is performed in parallel with fetal fraction signatures, to detect various anomalies that may compromise diagnosis. An extra regression analysis may be necessary to resolve mosaic situations. ABSTRACT Noninvasive prenatal diagnosis relies on the analysis of the
Jean‐Louis Blouin   +2 more
wiley   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

open access: yesClinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru   +16 more
wiley   +1 more source

‘Trisomy 21’ [PDF]

open access: yesBulletin of the Royal College of Psychiatrists, 1985
openaire   +1 more source

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

open access: green, 2020
J. O. Korbel   +31 more
openalex   +1 more source

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