Results 131 to 140 of about 19,176 (234)

Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review. [PDF]

Int J Mol Sci
Butler MG.
europepmc   +1 more source

t(11;22)(q23;q13) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
openaire   +1 more source

X‐Linked Intellectual Developmental Disorder‐93 Caused by BRWD3 Mutation in Females: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A case of MRX93 in a 1‐year‐and‐3‐month‐old girl was reported, in whom a heterozygous deletion from exon 21 to exon 30 in the BRWD3 gene occurred. We conducted a literature review to explore the clinical phenotypes and genetic characteristics of MRX93 in females. ABSTRACT Objective To report the clinical manifestations and genetic diagnosis of a female
Yang Xiu, Yige Zhang, Yake Jiao, Wei Wang, Yanyan Hu   +4 more
wiley   +1 more source

t(1;22)(p13;q13) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
openaire   +3 more sources

Genomic Imprinting, Epigenetic Dysregulation, and Neuropsychiatric Mechanisms in Prader-Willi Syndrome: A Multi-Level Integrative Review. [PDF]

Cells
Śledzikowska Z, Żukow XE, Antos ZM, Waszkiewicz N.   +3 more
europepmc   +1 more source

Neonatal Bradypnea as an Under-Recognized Manifestation of Prader-Willi Syndrome: A Case Report. [PDF]

Cureus
Ranjan A, Karim S, Valentin JJ, Fakih S.
europepmc   +1 more source

t(12;12)(p13;q13) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
openaire   +1 more source

Vortioxetine–Lurasidone Augmentation for Compulsive Scratching Behavior in Prader–Willi Syndrome: A Case Report

Neuropsychopharmacology Reports, Volume 46, Issue 2, June 2026.
This graphical abstract illustrates a case of Prader–Willi syndrome with compulsive scratching behavior, in which augmentation with lurasidone following vortioxetine treatment resulted in marked symptom improvement. The case highlights a potential pharmacological approach for obsessive‐compulsive–related behaviors in Prader–Willi syndrome.
Yasuhide Nagoshi
wiley   +1 more source

t(8;19)(p11;q13) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
openaire   +1 more source

Development and Validation of the Professional Self‐Concept Scale for Hospital Nurses (PSCS‐HN)

Research in Nursing &Health, Volume 49, Issue 3, Page 269-282, June 2026.
ABSTRACT Professional self‐concept (PSC) has a positive influence on the attitudes and behaviors of members of an organization toward their work. Although establishing PSC is vital for nurses to provide quality nursing care, assessing PSC precisely in ever‐changing healthcare environments can be challenging.
Eun‐Ha Kim, Hye‐Ah Yeom
wiley   +1 more source