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31941por Lilford, Richard J, Girling, Alan J, Sheikh, Aziz, Coleman, Jamie J, Chilton, Peter J, Burn, Samantha L, Jenkinson, David J, Blake, Laurence, Hemming, KarlaEnlace del recurso
Publicado 2014
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31942
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31943por Mo, Guoyan, Ding, Qin, Chen, Zhongshan, Li, Yunbo, Yan, Ming, Bu, Lijing, Song, Yanping, Yin, Guohua“…This study aims to investigate a Chinese case diagnosed as EOSRD and to characterize the polymorphisms of the RPE65 gene. A seven-year-old girl with clinical symptoms of EOSRD and her parents were recruited into this study. …”
Publicado 2014
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31944“…METHODS: Case 1 was a girl aged 6 years 10 months who had atlantoaxial rotatory fixation with os odontoideum. …”
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31945“…CASE PRESENTATION: We present a 15-year-old British Caucasian girl with Treacher Collins syndrome who developed a severe double thoracic scoliosis measuring 102° and 63° respectively. …”
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31946por Komlósi, Katalin, Duga, Balázs, Hadzsiev, Kinga, Czakó, Márta, Kosztolányi, György, Fogarasi, András, Melegh, Béla“…RESULTS: Here we report on a 5 year-old Hungarian girl presenting with severe developmental delay, good receptive language but absent spoken speech, short stature, dystrophy, hypotonia, distinctive facies including broad forehead, frontal bossing, downward slanting palpebral fissures, hypertelorism, hypoplastic ear-lobes, anteverted nostrils, short philtrum, small mouth, higharched palate, short, small hands and feet, distally narrowing fingers and clinodactyly. …”
Publicado 2015
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31947por Pezzani, Lidia, Milani, Donatella, Manzoni, Francesca, Baccarin, Marco, Silipigni, Rosamaria, Guerneri, Silvana, Esposito, Susanna“…CASE PRESENTATION: We report a girl with the smallest deletion reported to date involving the entire HOXA cluster at 7p15.2-p14.3. …”
Publicado 2015
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31948por Ulusoy, Ezgi, Karaca, Neslihan Edeer, El-Shanti, Hatem, Kilicoglu, Erhan, Aksu, Guzide, Kutukculer, Necil“…In this case report, we describe a case of a 12-year-old Turkish girl who initially was presented at 1 year of age, older than previously reported children with interleukin-1 receptor antagonist deficiency, and with a novel mutation, p.R26X, in ILR1N. …”
Publicado 2015
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31949por Campbell-Palmer, Róisín, Del Pozo, Jorge, Gottstein, Bruno, Girling, Simon, Cracknell, John, Schwab, Gerhard, Rosell, Frank, Pizzi, RomainEnlace del recurso
Publicado 2015
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31950
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31951por Aligolbandi, Kobra, Siamian, Hasan, Balaghafari, Azita, Vahedi, Mohammad, Naeimi, Omolbanin“…Among distraction external factors in male students, the factor “Adornment of professors” with mean 3.27 and SD=1.30 and Mean Rank=23.06 was in first priority, and among external distraction factors in girl students, the factor, “Used clothing and exotic costumes of Classmates” with mean=3.21, SD=1.30 and mean rank=22.66 was in first priority and factor of “Surroundings Noise (mowing, drilling, construction, and …)” for male and female students was in last priority. …”
Publicado 2015
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31952“…CASE PRESENTATION: In Case 1, a 2-year-old Asian girl presented with a delayed (11 days) wound on her right leg. …”
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31953
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31954“…Case 2 was a 14-year-old girl who presented with dysmenorrhea and lower abdominal pain since a few months. …”
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31955“…CASE PRESENTATION: A 13 year old girl with RTT was referred to the Centre for Interventional Paediatric Psychopharmacology and Rare Diseases (CIPPRD), South London and Maudsley NHS Foundation Trust. …”
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31956por Nega, Wassihun, Damte, Meku, Girma, Yonas, Desta, Getachew, Hailemariam, Mengistu“…On her arrival at our hospital, an obstetrician decided to do a caesarean section because she was unable to deliver vaginally. A live baby girl weighing 4200 g was delivered. The placenta was single and normal. …”
Publicado 2016
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31957“…We report the case of an 11-month old girl presenting with microcephaly, dystonia, and lactic acidosis, concerning for a mitochondrial disorder, but atypical for ACAD9 deficiency. …”
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31958
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31959“…The pediatric patient described in this case report is a young girl of African descent, treated for congenital HIV with a combination therapy of Lopinavir/Ritonavir (1 dd 320/80 mg), Lamivudine (1 dd 160 mg) and Abacavir (1 dd 320 mg). …”
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31960“…Here, we report the case of a 12-year-old girl who presented in World Health Organization (WHO) functional class III and right ventricular (RV) failure with recurrent syncope, dizziness, and progressive fatigue for two years. …”
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