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681
Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy
Published 2025-01-01“…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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682
A Study of the Source Traffic Generator Using Poisson Distribution for ABR Service
Published 2012-01-01“…This traffic generator inherits the advantages of both Poisson and exponential distribution functions to achieve enhanced link performance. …”
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683
Details of Walker 256 carcinosarcoma growth in Brattleboro and ISIAH lines of rats
Published 2016-05-01“…ISIAH rats are carriers of inherited stress-induced arterial hypertension. Vascular rigidity is accompanied by additional pleiotropic effects. …”
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684
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685
Peníze v životě měšťanek předbělohorského období
Published 2010-07-01“…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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686
Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia
Published 2025-02-01“…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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687
Trismus Pseudocamptodactyly Syndrome: A Sporadic Cause of Trismus
Published 2013-01-01“…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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688
A Case of Male Goltz Syndrome
Published 2012-01-01“…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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689
Le coq médiéval
Published 2017-12-01“…The medieval speech on the cock, inherited partly from Latin authors, is spread through bestiaries. …”
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690
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
Published 2010-11-01“…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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691
Influence de la fiction policière américaine chez trois auteurs de fantasie britannique (Green - Pratchett - Scott)
Published 2013-01-01“…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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692
Microwave ablation for recurrent primary hyperparathyroidism in four patients with multiple endocrine neoplasia type 1: a case series report
Published 2024-12-01“…Multiple endocrine neoplasia type 1 (MEN1), a rare tumor syndrome, is inherited in an autosomal dominant pattern, mainly manifested as primary hyperparathyroidism (PHPT). …”
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693
Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
Published 2011-01-01“…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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694
True Generalized Microdontia and Hypodontia with Spondyloepiphyseal Dysplasia
Published 2013-01-01“…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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695
Predicate-based authenticated key exchange protocol with attribute-hiding
Published 2012-09-01“…To overcome the problem that available predicate-based authenticated key exchange(PBAKE)protocols had drawback on privacy protection,a new PBAKE protocol was presented.The new protocol was constructed via combining an inner product encryption scheme with NAXOS technique.The security of the new protocol could be reduced to GBDH assumption in the modified eCK model.At the same time,for inheriting the security property of attribute-hiding from the inner product encryption scheme,the proposed protocol guarded against disclosure of users’ sensitive information.…”
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696
A Case of Lacrimo-Auriculo-Dento-Digital Syndrome with Multiple Congenitally Missing Teeth
Published 2016-01-01“…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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697
À la naissance de deux graphèmes-symboles : LH et NH
Published 2020-12-01“…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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698
Une relecture de l’événement : La chute du Royaume arabe de Damas en 1920
Published 2005-01-01“…Therefore, we have, first and foremost, sought to understand the transformations of the Syrian political arena in those days in the light of economic and social changes that affected the Bilâd al-Shâm during a long Ottoman 19th century, before exploring the intellectual history and that of representations, and being aware that the civilizing example of the Arabian kingdom, inherited from the Europe of the Enlightenment, was eventually bound to come up against a radical and populist trend in the Arab nationalism.…”
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699
Patrimonialisation et greffes culturelles sur des friches issues de l’industrie minière
Published 2024-03-01“…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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700
Left Atrial Appendage Closure for Stroke Prevention in Patients with Atrial Fibrillation and Hereditary Hemorrhagic Telangiectasia
Published 2012-01-01“…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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