Results 81 to 90 of about 14,133 (214)

Post-copulatory competition in a social monogamy system: Sperm morphology correlates with components of reproductive success. [PDF]

PLoS One
Hawkins CE, Hahn TP, Malisch JL, Patricelli GL.   +3 more
europepmc   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

Arguments and Analogies: Do Children Have a Right to Know Their Genetic Origins? [PDF]

Hastings Cent Rep
Charles S.
europepmc   +1 more source

Functional constipation in children and young adults with Prader–Willi syndrome

JPGN Reports, EarlyView.
Abstract Objectives Prader–Willi Syndrome (PWS) is characterized by hyperphagia, endocrinopathies, and gastrointestinal abnormalities. Clinical concerns about constipation and fecal incontinence (FI) are common, but no studies to date have clear data on functional defecation disorders in children with PWS.
Melinda J. Pierce, Isabella Niu, Lusine Ambartsumyan, Parisa Salehi   +3 more
wiley   +1 more source

Setting the Record Straight: The Intellectual Legacy of H. Igor Ansoff (1918–2002)

Strategic Change, EarlyView.
ABSTRACT This study presents a comprehensive annotated bibliography of H. Igor Ansoff's intellectual contributions, addressing significant gaps in existing citation databases such as Scopus and Web of Science, which capture only 9 to 15 percent of his work.
Richard W. Puyt
wiley   +1 more source

Subtle discrimination of fathers in relation to leave-taking: a comparative study of Slovakia and Poland. [PDF]

Front Sociol
Dančíková Z, Muter M.
europepmc   +1 more source

Familial genetic risk for posttraumatic stress disorder: Associations with clinical features

Journal of Traumatic Stress, EarlyView.
Abstract In the present study, the novel family genetic risk score (FGRS) method, a reliable quantification of latent genetic risk, was applied to posttraumatic stress disorder (PTSD) to examine associations between genetic liability and clinical features of PTSD among 3,097,180 individuals in the Swedish national registries.
Ananda B. Amstadter, Linda Abrahamsson, James E. Hart, Jan Sundquist, Kenneth S. Kendler, Kristina Sundquist   +5 more
wiley   +1 more source

Changes in PSA-Based Early Detection of Prostate Cancer over a 12-Year Period: Findings from the German KABOT Study. [PDF]

Healthcare (Basel)
Braun KP, Vogel T, May M, Gilfrich C, Herrmann M, Kravchuk AP, Maurer J, Wolff I.   +7 more
europepmc   +1 more source

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang, Rajasumi Rajalingam, Zachary Walls, Jana Huang, Christine Sun, Laura I. Rudaks, Dennis Yeow, Ashar Rasheed, Jenny W. Zhang, Moath Hamed, Marianthi Breza, Susen Schaake, Chetan Vekhande, Jason Massa, Robyn E. Massa, Aakash Shetty, Carolyn M. Sue, Franca Cambi, Oksana Suchowersky, Franca Vulinovic, Sonja Petkovic, Christine Klein, Katja Lohmann, Connie Marras, Kishore R. Kumar   +24 more
wiley   +1 more source

Evaluate the forensic efficiency parameters of the D13S317 gene in closely related family members in Gondar town, Northwest Ethiopia. [PDF]

J Genet Eng Biotechnol
Begashew BA, Yeshanew TM, Sendeku W, Birhane N.   +3 more
europepmc   +1 more source