Results 31 to 40 of about 257,096 (267)
Atypical Presentation of Goldenhar Syndrome
Bengal Journal of Otolaryngology and Head Neck Surgery, 2021 Introduction In 1952 Goldenhar described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenhar Syndrome. Case Report A case of Goldenhar Syndrome without ocular involvement
Shubhrakanti Sen +2 more
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Familial Malignant Melanoma - Overview
Hereditary Cancer in Clinical Practice, 2004 Approximately 3-15% of all malignant melanomas (MM) are familial cases. MM is a highly heterogeneous tumour type from a genetic perspective. Pedigrees with disease confined to a single generation of siblings or MM occurring among second- or third-degree ...
Dębniak Tadeusz
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Schizophrenia and Mitochondrial Dysfunction [PDF]
Psikiyatride Güncel Yaklaşımlar, 2014 Genetic factors play an important role in the development of schizophrenia that the etiology is clearly not known. However, specific inheritance mechanism of this disorder is still unclear.
Suleyman Akarsu
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Subtyping and Inheritance for Categorical Datatypes [PDF]
, 1998 We extend Hagino's categorical datatypes with subtyping and a limited form of inheritance. The view of objects as coalgebras provides the inspiration for subtyping and inheritance for coalgebraic (or coinductive) types.
Poll, Erik
core
Advanced Science, EarlyView.FES‐derived MGE spheroids exhibit progenitor‐stage alterations in developmental trajectory and hypoxia‐responsive transcriptional programs, followed by functional disruption. Gestational hypoxia recapitulates impaired progenitor proliferation, shortened cell‐cycle progression, interneuron developmental abnormalities, and schizophrenia‐like behaviors in
Peiyan Ni +17 more
wiley +1 more source
Patient with Familial Nonsyndromic Cleft Lip and Palate with Unaffected Parents
Cerrahpaşa Medical Journal, 2019 Cleft lip and palate represents a group of malformations with multifactorial etiology. Here, its etiology has been reviewed in light of the current literature with the presentation of a case of familial nonsyndromic cleft lip and palate.
Anıl Demiröz +4 more
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Tumor Exposomics: A New Paradigm for Individualized Continuous Exposure Monitoring
Advanced Science, EarlyView.Tumor exposomics integrates continuous monitoring of environmental exposures, endogenous biological responses, and behavioral factors within a unified temporal framework. By combining multimodal sensing technologies with AI‐enabled causal modeling, this emerging paradigm reconstructs exposure‐damage trajectories and supports individualized dynamic risk
Kaicheng Shen +6 more
wiley +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Multifactorial Inheritance and Common Diseases
, 2020 A dolgozat a "Medical Genetics" című könyvből (ötödik kiadás, szerk. Lynn B. Jorde, PhD, John C. Carey, MD, Michael J. Bamshad, MD, 2015) a 'Multifactorial Inheritance and Common Diseases" című fejezet fordítását tartalmazza.
Pető, Orsolya
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins +9 more
wiley +1 more source