Results 201 to 210 of about 72,492 (265)

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Geopolitical impacts on the description of new terrestrial mollusc species. [PDF]

Proc Biol Sci
Abreu ECT, da Silva EL, Moura MR.
europepmc   +1 more source

Nordic Council of Ministers Publications Subject Catalogue 2014: Environment

, 2014
openaire   +2 more sources

What’s the real story? Is the Coquitlam library experience working? [PDF]

, 1972
Haycock, Ken
core   +1 more source

A Systematic Review of Adverse Childhood Experiences and Epigenetic Age Acceleration in Later Adult Life Measured With Second and Third‐Generation Epigenetic Clocks

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT We examined the relationship between adverse childhood experiences (ACEs) and epigenetic age acceleration (EAA) in adulthood as measured by second and third generation epigenetic clocks by performing a systematic review of the literature. The electronic databases MEDLINE and EMBASE were searched on 17 July 2023.
Matthew Green, Laura Horsfall, Azam Saied   +2 more
wiley   +1 more source

Knowledge management - a possible role for libraries? [PDF]

, 2002
Ball, Rafael
core  

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Novel apicomplexan in the critically endangered Leadbeater's possum, <i>Gymnobelideus leadbeateri</i>. [PDF]

Int J Parasitol Parasites Wildl
Adriaanse K, Gasser RB, Koehler AV.
europepmc   +1 more source

The contribution of TB rapid diagnostic testing in reducing TB-related mortality in Sub-Saharan Africa- in both Person-Living with HIV and HIV-Negative populations: A 9-year quantitative retrospective analysis. [PDF]

BMC Infect Dis
Chi FM, Moungui HC, Musaga NA, Mbatchou-Ngahane BH.   +3 more
europepmc   +1 more source

Gold geochemical anomalies delineated by the stratigraphic zoning anomaly lower limit contrast method: a case study of panjiaba, Shaanxi province, China. [PDF]

Sci Rep
Yuekun W, Shaolei K, Jin L, Shangqi L, Chaoran D.   +4 more
europepmc   +1 more source