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781
The role of the patients register in early diagnostics of familial adenomatosis coli
Published 2010-08-01“…Genetic testing detected disease at preclinical stage in 18 (56%) of 32 actively investigated relatives of proposituses, allowed to form the risk group of patients from АРС-negative families and to remove patients who have not inherited АРС (Adenomatous Polyposis Coli) mutation from further observation.Conclusion. …”
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782
RESULTS OF RESEARCH INTO CO LOA CITADEL (2007 - 2014): MATERIALS AND DISCUSSION
Published 2019-09-01“…Co Loa citadel, built by King An Duong, inherited a previous one - the citadel/ramparts of a defensive village from a chiefdom of the late Dong Son period. …”
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783
From Prion Diseases to Prion-Like Propagation Mechanisms of Neurodegenerative Diseases
Published 2013-01-01“…Prion diseases are fatal neurodegenerative sporadic, inherited, or acquired disorders. In humans, Creutzfeldt-Jakob disease is the most studied prion disease. …”
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784
Conversions to Catholicism among Fin de Siècle Writers: A Spiritual and Literary Genealogy
Published 2012-10-01“…During the last decade of the 19th century, a number of English writers converted to Roman Catholicism: the “Decadent” poets John Gray, Lionel Johnson and Ernest Dowson joined the Church in 1890 and 1891, while Oscar Wilde flirted with the Catholic faith during his college years at Oxford, and received the last sacraments on his deathbed in 1900. These writers all inherited from Walter Pater a taste for the splendours of religious rite. …”
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785
The Genetics of Alzheimer’s Disease
Published 2012-01-01“…Early onset Alzheimer’s is rare, accounting for less than 5% of disease burden. It is inherited in Mendelian dominant fashion and is caused by mutations in three genes (APP, PSEN1, and PSEN2). …”
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786
Minimum Risk Facility Location-Allocation Problem with Type-2 Fuzzy Variables
Published 2014-01-01“…Facility location decision is basically viewed as a long-term strategy, so the inherited uncertainty of main parameters ought to be taken into account in order to make models applicable. …”
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787
The Identification of Immune-Related Biomarkers for Osteoarthritis Immunotherapy Based on Single-Cell RNA Sequencing Analysis
Published 2023-01-01“…Several genetic factors are involved in OA, including inherited genes, genetic susceptibility, and genetic predisposition. …”
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788
Classification and Analysis of College Students’ Skills Using Hybrid AI Models
Published 2022-01-01“…For example, each student perceives, assimilates, and uniquely processes the information when being transmitted to him, which confirms the inherited diversity. In this regard, educational systems are required to deal effectively with students and to apply the principles of personalized learning, which is pertinent to learning processes that meet the individual needs and interests of learners. …”
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789
The Spell of the Ancestors at the “Feast of Victory” (Nemlaay): From Initiation Ritual to Community Blessings
Published 2024-12-01“…Basically, Nemlaay rites emphasize status and inherited rank in connection to age and descent according to Long Glaat ideas. …”
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790
Libertas as an Expression of Roman Identity in Cicero and Sallust
Published 2021-11-01“…Cicero and Sallust place their hopes of moral and political renewal of the res publica in a nobilitas that cannot be inherited and is based on individual virtus. …”
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791
Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy
Published 2024-01-01“…Rhabdomyolysis can also be an initial presentation in inherited muscle disorders. This study reports a novel case of calpainopathy (LGMDR1) diagnosed in a 19-year-old male military cadet who initially presented with recurrent rhabdomyolysis during training, a rare presentation in LGMD patients. …”
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792
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome
Published 2010-01-01“…Fanconi anemia (FA) is a recessively inherited disease characterized by multiple symptoms including growth retardation, skeletal abnormalities, and bone marrow failure. …”
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793
Pontocerebellar hypoplasia: clinical case and literature review
Published 2019-09-01“… Pontocerebellar hypoplasia (PCH) is a group of rare neurodegenerative disorders which start in the intrauterine period and are inherited by autosomal recessive way. Structural changes caused by the mutation include cerebellar hypoplasia or atrophy, microcephalus, and hypoplasia of ventral pons. …”
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794
REDERIVATION BY EMBRYO TRANSFER IN STRAINS OF LABORATORY MICE AND RATS
Published 2014-12-01“…The two rat strains are: tame Norway rats and rats with Inherited Stress Induced Arterial Hypertension (ISIAH strain). …”
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795
A Massive Extradural Hematoma in Sickle Cell Disease and the Importance of Rapid Neuroimaging
Published 2019-01-01“…Sickle cell disease (SCD) is an inherited hemoglobinopathy leading to several serious organ complications and early death. …”
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796
Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome
Published 2015-01-01“…Rarely, the genetic mechanism responsible for Prader-Willi syndrome can be inherited. We report a highly unique case of three siblings who share this condition. …”
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797
Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease
Published 2014-01-01“…In our patient, a maternally inherited, previously reported pathogenic missense mutation in the PKHD1 gene, c.10444C>T, was identified. …”
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798
Deep Venous Thrombosis and Bilateral Pulmonary Embolism Revealing Silent Celiac Disease: Case Report and Review of the Literature
Published 2017-01-01“…Comprehensive investigation for inherited or acquired prothrombotic disorders was negative. …”
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799
A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage
Published 2025-01-01“…Background: Hypophosphatasia (HPP) is an inherited disease caused by low activity of tissue-nonspecific alkaline phosphatase. …”
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800
A Link between Autophagy and the Pathophysiology of LRRK2 in Parkinson's Disease
Published 2012-01-01“…Mutations in leucine-rich repeat kinase 2 (LRRK2) cause dominantly inherited PD, and variations increase risk, indicating that LRRK2 is an important player in both genetic and sporadic forms of the disease. …”
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