Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine by Anna-Maria Wiesinger, Florian B. Lagler

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Peníze v životě měšťanek předbělohorského období by Michaela Hrubá

“…What also proved to be of interest were the sources relating to inheritances, inventories and last wills. There is even a mention of lists of widows who levied money as so called “herwet”. …”
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Thrombophilia in young adults with ischemic stroke: an overview by R. Mineikytė, L. Kryžauskaitė, K. Ryliškienė

“… Thrombophilia broadly defines inherited or acquired coagulation disorders associated with increased tendency to form intravascular thrombi. …”
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Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy by Neha Goel

“…A case of unilateral FCE in a 17-year-old male with autosomal recessive bestrophinopathy (ARB) is described with multimodal imaging findings. ARB is a rare inherited retinal dystrophy resulting from mutations in the BEST1 gene. …”
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A Study of the Source Traffic Generator Using Poisson Distribution for ABR Service by Mohsen Hosamo

“…This traffic generator inherits the advantages of both Poisson and exponential distribution functions to achieve enhanced link performance. …”
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Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia by Ziravard N. Tonyan, Yulia A. Nasykhova, Maria M. Danilova, Elena S. Shabanova, Olesya N. Bespalova, Igor Y. Kogan, Andrey S. Glotov

“…The successful application of PGT-M enabled the selection of an embryo free from inherited pathogenic variants from both parents, highlighting the importance of PGT-M in improving reproductive outcomes for affected families.…”
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Trismus Pseudocamptodactyly Syndrome: A Sporadic Cause of Trismus by Prathima Sreenivasan, Faizal C. Peedikayil, Sumal V. Raj, Manasa Anand Meundi

“…Trismus pseudocamptodactyly syndrome is a very rare autosomal dominant inherited disorder characterized by the inability to completely open the mouth (trismus) and the presence of abnormally short tendon units causing the fingers to curve (camptodactyly). …”
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A Case of Male Goltz Syndrome by Bhaswati Ghoshal, Subhrajit Lahiri, Debabrata Nandi

“…A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported.…”
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Le coq médiéval by Michel Pastoureau

“…The medieval speech on the cock, inherited partly from Latin authors, is spread through bestiaries. …”
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Nature urbaine et urbanité dans la station touristique de Salou (Espagne), au travers de l’étude : d’un parc-promenade, d’un paseo, d’un parc urbain by Jean Rieucau

“…The municipalities steer the urban recovery policies on the beaches, beach heights, along the coastal line, at the expense of anarchical urbanization, inherited from the years 1960 (hotels, camping ground). …”
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Influence de la fiction policière américaine chez trois auteurs de fantasie britannique (Green - Pratchett - Scott) by Catherine Magalhaes

“…This examination is organized around the potential initiation undergone by the protagonists, which is an element inherited from the adventure novel.…”
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Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta by I. Mouna Ben Amor, Francis H. Glorieux, Frank Rauch

“…Osteogenesis imperfecta, discussed in Baldridge et al. 2008 is an inherited bone fragility disorder with a wide range of clinical severity that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains. …”
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True Generalized Microdontia and Hypodontia with Spondyloepiphyseal Dysplasia by Anita Singhal, Parul Singhal, Ranjan Gupta, Kush Dev Jarial

“…Spondyloepiphyseal dysplasia (SED) is a descriptive term used for group of inherited disorders of bone growth resulting in short stature, skeletal abnormalities, and problems with hearing and vision. …”
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A Case of Lacrimo-Auriculo-Dento-Digital Syndrome with Multiple Congenitally Missing Teeth by Lumbini Pathivada, Munagala Karthik Krishna, Mandeep Rallan

“…Lacrimo-auriculo-dento-digital (LADD) syndrome is an extremely rare disorder which may occur sporadically or inheritably as an autosomal dominant condition. It is characterized by defects in the lacrimal apparatus, ear problems, and dental and digital abnormalities. …”
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À la naissance de deux graphèmes-symboles : LH et NH by Philippe Martel

“…Therefore, the graphic system inherited from classical latin must be adapted, and new graphems designed, in order to permit a clear notation of new phonems, palatals for instance. …”
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Patrimonialisation et greffes culturelles sur des friches issues de l’industrie minière  by Bruno Lusso

“…However, political philosophy has changed since the end of the 1980s, making possible the cultural regeneration of some wastelands inherited from mining industry throughout new cultural facilities, creative industries and festivals.…”
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Left Atrial Appendage Closure for Stroke Prevention in Patients with Atrial Fibrillation and Hereditary Hemorrhagic Telangiectasia by Sebastiaan Velthuis, Martin J. Swaans, Johannes J. Mager, Benno J. W. M. Rensing, Lucas V. A. Boersma, Martijn C. Post

“…Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disorder, characterized by vascular abnormalities with high-bleeding tendency and therefore intolerance for oral anticoagulation. …”
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Case studies in heritable vascular disease: Proceedings of the UTHealth Houston Multidisciplinary Aortic Conference by Milan Jaiswal, BA, Lucas Ribe, MD, Rana O. Afifi, MD, Yuki Ikeno, MD, Alana C. Cecchi, MS, Bihong Zhao, MD, PhD, Akiko Tanaka, MD, PhD, Gustavo S. Oderich, MD, L. Maximilian Buja, MD, Dianna M. Milewicz, MD, PhD, Siddharth K. Prakash, MD, PhD, Anthony L. Estrera, MD

“…Heritable thoracic aortic disease is caused by dominantly inherited mutations in more than a dozen genes, including TGFB2 mutations that cause Loeys-Dietz syndrome. …”
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Treatment of arrhythmogenic right ventricular cardiomyopathy (dysplasia) by M.Т. Vatutin, G.S. Smyrnova, Y.V. Yeshchenko, G.E. Degtiarova, V.S. Kolesnikov, Y.P. Gritsenko

“…Arrhythmogenic right ventricular cardiomyopathy (dysplasia) is an inheritable heart muscle disease predisposing to ventricular arrhythmias and increasing risk of sudden cardiac death. …”
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La fabrique du musée d’art marocain : L’œuvre de Prosper Ricard by Habiba Aoudia

“…The purpose of this article is thus to analyse the emergence of an original museum model inherited from the protection measures of native arts initiated in Algeria. aiming eventually to re-consider the concept of “colonial museum”.…”
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