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1061
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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1062
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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1063
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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1064
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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1065
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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1066
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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1067
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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1068
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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1069
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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1070
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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1071
Primary ciliary dyskinesia: Meeting the challenges of diagnosis in South Africa
Published 2024-08-01“… Primary ciliary dyskinesia (PCD) is an inherited ciliopathy that results in impaired mucous clearance and affects primarily the respiratory tract, causing upper airway disease, bronchial inflammation and bronchiectasis. …”
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1072
Pour une écologie politique des savoirs. Comment hériter du domaine STS (Sciences, technologies et société) ?
Published 2022-06-01“…After showing how this project joins up with the idea of a political ecology of knowledges, we demonstrate in a first time how this issue inherits the epistemological and political questions that characterized the rise of french STS in the 1970’s. …”
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1073
Past Times and Our Times: Reading Our Mutual Friend
Published 2012-01-01“…Yet to be cut off from the world of print, is to live only half a life, a truth the illiterate Noddy Boffin immediately acts to correct when he inherits a fortune. The rapacious and grasping ballad-seller he engages to read to him proves an uncertain authority on matters of historical interpretation and comically loose with Roman names and pronunciation. …”
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1074
Mirror Target YOLO: An Improved YOLOv8 Method With Indirect Vision for Heritage Buildings Fire Detection
Published 2025-01-01“…This enables the model to inherit managers’ expertise in assessing fire-risk zones, improving focus and resistance to interference in fire detection. …”
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1075
ROKAT PANDHABAH TRADITION AND THE DIALECTICS OF THE QUR’AN: A STUDY OF THE LIVING QUR’AN IN MADURA
Published 2023-06-01“…One of the living Qur’an phenomena is the rokat pandhabah tradition of the people of Jenangger Village, Batang Batang District, Sumenep Regency. It is a tradition inherited from our ancestors, preserved and maintained until now. …”
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1076
Gestion des sols et des substrats pour la nature et l’agriculture urbaines à Strasbourg : vers un renouvellement des représentations et des pratiques des circulations de matière ?...
Published 2022-12-01“…As a result, the in situ management of inherited soils remains limited to community gardens and a joint development zone (in French zone d’aménagement concerté or ZAC) due to economic reasons and emerging political constraints. …”
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1077
Circle Plus Partial Helical Scan Scheme for a Flat Panel Detector-Based Cone Beam Breast X-Ray CT
Published 2009-01-01“…CBBCT featured with circular scan might be the most desirable mode in breast imaging due to its simple geometrical configuration and potential applications in functional imaging. An inherited large cone angle in CBBCT, however, will yield artifacts in the reconstruction images when only a single circular scan is employed. …”
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1078
Disparities in Cardiovascular Prosthetic Device-Related Deaths
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1079
Spherical hard carbon/graphite anode for high performance lithium ion batteries.
Published 2024-01-01“…It is also proved that the kinetics improvement is not only attributed to the high kinetics inherited from the instinct of hard carbon, but also the porous electrode structures constructed by the two-size powder system of graphite and hard carbon.…”
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1080
L’Histoire de l’Espagne à l’épreuve du musée. Les expériences du Museo Nacional Centro de Arte Reina Sofía (2008-2023)
Published 2024-11-01“…The aim is to measure the tangible limits of this approach and, above all, the current difficulty in extricating ourselves from a narrative inherited from Franco's historiography and reassumed during the democratic transition.…”
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