“…Moreover, we also report, for the first time, the frameshift mutation [c.7686delG (p.Ile2563fsX40)] in the NF1 gene, as well as its association with type 1 neurofibromatosis (NF1), characterized by pigmentary lesions (café au lait spots, Lisch nodules, freckling) and cutaneous neurofibromas. …”
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“…Her phenotype included hypertelorism, antimongoloid obliquity of the palpebral fissure, prominent forehead, long filtrum, thickened nucal fold, separated nipples, widespread thickened skinfolds and café-au-lait spots. She had a systolic murmur due to pulmonary valve stenosis. …”
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“…Methods: Seventy-six Washington state practitioners and academics with relevant professional responsibilities or expertise in wildfire smoke and health engaged in small group discussions using the “World Café Method” to identify practice-relevant research needs related to wildfire smoke and health. …”
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“…BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with equal sex incidence that is characterized by neurofibromas, café‐au‐lait macules, axillary freckling, optic pathway tumor, distinctive osseous lesion, and iris Lisch nodules. …”
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“…Specialist examination found cafe-au-lait spots on many parts of the skin, rounded nodules in the skin, a bulge in the right armpit, touching a lump (10 cm × 6 cm, hard, unclear boundary, poor mobility, local tenderness). …”
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“…The sample of the experiments of this research was 48 online games players in the internet cafe at Medan Area sub-district, which ages between 20 – 40 years old and have been playing games for at least 12 months RESULTS: It was found that there was strong one-way relation (0.625) between IGD and PHQ-9 significantly (p < 0.01), however, it was found that strong enough (-0.465) relation between IGD and DAT (p < 0.01) and strong opposite relation (-0.680) between PHQ-9 and DAT (p < 0.01). …”
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“…Methods: In this study, 95 Chinese children with clinical suspicion of NF1 mainly due to the presence of multiple café-au-lait macules (CALMs) were subjected to medical exome-sequencing analysis and Sanger confirmation of pathogenic variants. …”
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“…Neurofibromatosis type 1 (NF1) is a progressive neurocutaneous disorder in humans, mainly characterized by café-au-lait macules (CALMs) and neurofibromas. NF1 is caused by variants of the neurofibromin 1 gene (NF1), which encodes a Ras-GTPase-activating protein called neurofibromin. …”
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“…For example, if we met a friend in a café and they gave us a present, do we forget the constituent elements of this event (location, person, and object) independently, or would the whole event be forgotten? …”
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“…The development of the working definition included a 3-step approach: 1) literature screening; 2) expert-based compilation of an initial list of topics, leaning on the National Academy of Medicine framework for quality of care; and 3) a World Café with voting, which took place during the annual general meeting of the International Association for Dental Research in 2018. …”
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“…A loss of 20.5%, 8.6%, 2.9%, and 7.3% at the producer, wholesalers, retailers, and hotel and café level was recorded respectively with a total loss of 39.3%. …”
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“…Comparative analysis of the number of transporters in each family across diverse arthropod lineages was accomplished using one-way analysis of variance (ANOVA) and the Computational Analysis of gene Family Evolution (CAFE). These results suggested that many SLC families have undergone expansions or contractions in particular evolutionary lineages. …”
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“…We held a series of workshops, co-facilitated by patients and researchers, corresponding to 3 phases of the research: (1) establishment of cultural safety processes for participants during the workshops; (2) a facilitated, collaborative world café to develop guideline content; (3) validation of best practice guidelines. …”
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“…DESIGN: This is a qualitative study, which entailed working groups and co‐design sessions utilizing World Café and deliberative dialogue techniques to continually refine the intervention. …”
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“…The activities are aimed at fostering communication and social engagement through exercise, music, cafe, and craft. After the emergence of COVID-19 pandemic, these activities have been disrupted. …”
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“…Three different pathogenic variants of the NF1 gene were found in three probands who mainly complained of café-au-lait macules (CALMs), including one frameshift variant c.5072_5073insTATAACTGTAACTCCTGGGTCAGGGAGTACACCAA:p.Tyr1692Ilefs in exon 37, one missense variant c.3826C > T:p.Arg1276Ter in exon 28, and one splicing variant c.4110 + 1G > T at the first base downstream of the 3′-end of exon 30. …”
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“…Binge drinking in the last 30 days (5+ units on one occasion) was regressed on frequency of computer gaming and three control variables measuring the frequency of engagement in other hobbies, reading books and going out (to a disco, cafe, etc.). RESULTS: Descriptive data showed no general decline in binge drinking across European countries. …”
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“…BACKGROUND: Neurofibromatosis type 1 (NF1) is an inherited autosomal dominant disorder affecting many parts of the body with café au lait spots, skeletal deformity, and scoliosis. …”
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“…RESULTS: The clinical presentations encompassed, café‐au‐lait spots in 100% of probands, freckling (52%), neurofibromas (20%), Lisch nodules of the iris (12%), optic pathway glioma (8%), typical skeletal disorders (20%), and positive family history (32%). …”
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“…She presented with multiple café-au-lait lesions and neurofibromas on her skin and was diagnosed pathologically as having neurofibromatosis type 1(NF1). …”
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