Search results for “Prenatal Diagnosis”

About 3 results in articles

Open Access Pub publishes peer-reviewed, free-to-read open-access articles. Showing articles matching Prenatal Diagnosis — open any to read the full text, or download the PDF or XML.

The Additional Diagnostic Value of the Three-dimensional 3D ultrasound and Doppler angiography imaging  in the prenatal diagnosis of left isomerism

Dec 2020 DOI 10.14302/issn.2641-5518.jcci-20-3636
Wael El GuindiCorresponding author

Objective To highlight the value of 3D ultrasound and Doppler angiography imagingin the prenatal assessment of left fetal isomerism. Methods A retrospective offline analysis of volume datasets of 3 fetuses with left atrial isomerism by 3D ultrasound was conducted. Conclusion We believe that parasagi…

A Trio Study Showing Novel Gene Mutation In LAMB3 Causing Junctional Epidermolysis Bullosa (Intermediate/ Severe)

Feb 2024
Shaile BandlaCorresponding author

Background Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. It is categorized into: the Herlitz type and the Non-Herlitz type. JEB is inherited in an autosomal recessive pattern. Mos…

The Genetic Multiplicity- Multiple Endocrine Neoplasia type I

Feb 2020 DOI 10.14302/issn.2690-4837.ijip-20-3176
Anubha BajajCorresponding author

Multiple endocrine neoplasia type 1 (MEN1) is a syndrome emerging from characteristic mutations of  MEN1 gene with concurrently enunciated  multiple endocrine and tumours and associated non-endocrine neoplasm. Previously designated as Werner’s syndrome, MEN1 syndrome denominates genomic mutation wit…

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