Results 61 to 70 of about 563,377 (256)
Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan +5 more
wiley +1 more source
Bone & Joint OpenAims: The aim of this study was to perform a systematic review and bias evaluation of the current literature to create an overview of risk factors for re-revision following revision total knee arthroplasty (rTKA).
Julius T. Hald +5 more
doaj +1 more source
The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle +3 more
wiley +1 more source
How to search the medical literature
Current Medicine Research and Practice, 2011 Searching the medical literature is often difficult and sometimes quite confusing. It is important to know the available databases and search tools along with their strengths and limitations.
Vivek Choudhary +3 more
doaj
Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy +21 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Child protection systems play a critical role in preventing and responding to child maltreatment, yet practices are often predominantly deficit focused. This paper presents a rapid literature review on the strengths, protective factors, and cultural considerations to inform child protection assessment.
Gabrielle R. Hunt +4 more
wiley +1 more source