X Linked Dominant - Nursing Science

Relevant Publications

Two new cases with the UBQLN2 gene mutation in Han Chinese.

Issue Release: 2024

A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia.

Issue Release: 2024

Genomic Testing in Patients with Kidney Failure of an Unknown Cause: a National Australian Study.

Issue Release: 2024

A Classic Cornelia De Lange Syndrome Type 5 (CdLS5) With a De Novo Missense Variation of p.Gly210Arg in the HDAC8 Gene With a Novel Phenotype of Generalized Dystonia.

Issue Release: 2024

Novel de novo heterozygous CACNA1A gene variant in generalised dystonia: a case report.

Issue Release: 2024

Acute Cholecystitis in a Patient With Situs Inversus.

Issue Release: 2024

Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.

Issue Release: 2024

Kidney Cysts in Children With Alport Syndrome: A Report of 3 Cases.

Issue Release: 2024

Thickness Variation of Conductive Polymer Coatings on Si Anodes for the Improved Cycling Stability in Full Pouch Cells.

Issue Release: 2024

The NM_033380.2 transcript of the gene contains a variable splice site c.4822-10T>C, which has been identified as a causative factor for Alport syndrome.

Issue Release: 2024

Oculo-facio-cardio-dental (OFCD) syndrome: a case report.

Issue Release: 2024

Prevalence and genotypic frequency of color vision defects among primary schoolchildren in Adama Town, Eastern Ethiopia.

Issue Release: 2024

Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.

Issue Release: 2024

Reassuring pregnancy outcomes in women with mild COL4A3-5 related disease (Alport Syndrome) as the genetic type of disease can aid personalized counseling.

Issue Release: 2024

Characterization and structural identification of a family 16 carbohydrate binding module (CBM): First structural insights into porphyran-binding CBM.

Issue Release: 2024

Case report of congenital neutropenia type 4 with glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency.

Issue Release: 2024

Characterization of the inheritance of field-evolved resistance to diamides in the fall armyworm (Spodoptera frugiperda) (Lepidoptera: Noctuidae) population from Puerto Rico.

Issue Release: 2024

Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome\'s Rare Features Across Generations in a Familial Trilogy.

Issue Release: 2024

A multidimensional appraisal of early menstrual pain experience.

Issue Release: 2024

CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease.

Issue Release: 2024

How Does Lack of Motivation Affect Patient Care?

What is Consent in Nursing?

How to Motivate Patients for ROM Exercises?

What are the Risks Associated with Full Rails?

How Does Detection Bias Affect Nursing Practice?

How Does Laerdal Enhance Nursing Education?

What is Adverse Event Reporting?

What is Social Health?

How Can Expectant Mothers Maintain Mental Health?

How Can Organizations Improve Staff Retention?

Partnered Content Networks

Relevant Topics