Az anotiát és microtiát kísérő többszörös fejlődési rendellenességek eloszlása [Distribution of multiple congenital abnormalities including anotia and microtia] [PDF]
, 2011 To evaluate cases with unclassified multiple congenital abnormalities including microtia and anotia as component congenital abnormalities in order to reveal the characteristic pattern of other associated component congenital abnormalities and to make an ...
Bánhidy, Ferenc +8 more
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The strong association of left-side heart anomalies with Kabuki syndrome [PDF]
Korean Journal of Pediatrics, 2015 PurposeKabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies.
Ja Kyoung Yoon +6 more
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Indian Journal of Pathology and Microbiology, 2019 NeuLaxova syndrome (NLS) is a rare congenital abnormality involving multiple systems. Until date, only 60 cases of this syndrome have been reported in the literature.
Tanima Dwivedi, Manasi Gosavi
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Nevus Sebaceous with Multiple Basal Cell Carcinomas and Extracutaneous Abnormalities: Genetic Origin or Coincidence? [PDF]
, 2022 The association of cutaneous and extracutaneous abnormalities is a common phenomenon, widely described in a variety of genetic syn- dromes. Nevertheless, yet undescribed syndromic combinations may still exist.
Chlebicka, Iwona +3 more
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BMC Musculoskeletal Disorders, 2023 Background Congenital scoliosis(CS) is associated with multiple organs defect, and cardiac abnormalities have been reported commonly associated with CS. Hemivertebra is caused by the failure of vertebral formation, which is a major constitute of CS. Till
Shengru Wang +4 more
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Clinical Significance of TP53 Abnormalities in Newly Diagnosed Multiple Myeloma
Turkish Journal of Hematology, 2021 Objective: This study aimed to identify the clinical significance of TP53 and common cytogenetic abnormalities. Materials and Methods: A total of 114 patients with newly diagnosed multiple myeloma (MM) and TP53 abnormalities were selected from two large ...
Fang Ye +6 more
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KlippelFeil syndrome and associated congenital abnormalities: evaluation of 23 cases
Acta Orthopaedica et Traumatologica Turcica, 2020 Objectives: The purpose of this study was to review adult patients with Klippel-Feil syndrome.\nMethods: The study included 23 male patients (mean age 20.5 years, range 19 to 27 years) with Klippel-Feil syndrome.
Mahir ogullari +4 more
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Lipid Profile Abnormalities in ß-Thalassemia Patients with Multiple Blood Transfusions
Journal of Bahria University Medical and Dental College, 2023 Objective: To determine lipid profile abnormalities in ß -thalassemia patients with multiple blood transfusions in tertiary care hospital. Study design and setting: This cross-sectional study was conducted in Chemical Pathology section ...
Syeda Sabahat Haidar +3 more
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Multiple congenital ocular abnormalities (MCOA) in Rocky Mountain Horses and Kentucky Mountain Saddle Horses in Europe [PDF]
, 2010 The study describes the prevalence of multiple congenital ocular abnormalities (MCOA) in Rocky Mountain Horses and Kentucky Moutain Saddle Horses in Europe. Materials and methods: 35 RMH und KMSH were examined between 1999 and 2010. Their coat color were
Spiess, B M, Kaps, S
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Multiple follicular abnormalities in a 1‐year old cat consistent with basaloid follicular hamartomas
, 2022 International audienceBackground: In humans, basaloid follicular hamartomas are benign follicular tumours, that can be solitary or multiple, in which case they show autosomal dominant inheritance.Hypothesis/Objectives: This study describes clinical and ...
Jérôme Abadie +19 more
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