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1by SHALBAFAN, Bita“...How to Cite this Article: Shalbafan B. A Family Case Report of Niemman Pick C with New Mutation...”
Published 2015
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2by GOWDA, Vykuntaraju K, NANJUNDAPPA, Raghunath C, PENDHARKAR, Hima, BENAKAPPA, Naveen“... deficiency. Am J Hum Genet 1985; 37: 1-31.5. Hacke W, Doonnan G, Fieschi C, Kaste M, von Kummer R, Broderick...”
Published 2017
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3“... 2017; 11(3):53-56. AbstractNiemann–Pick disease type C (NP-C) is a rare neurovisceral and irreversible...”
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4“... randomly divided into five groups as follows (n=6 per group): control group without hypoxia (C1), control...”
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5by KARIMZADEH, Parvaneh, JAFARI, Narjes, NEJAD BIGLARI, Habibe, JABBEHDARI, Sayena, ALIZADEH, Mehdi, ALIZADEH, Ghazal, NEJAD BIGLARI, Hamid, SANII, Sara“... and brain MRI.c.253_254insC, p.R85Pfs112* was found in heterozygote state and the VLCFA assessment showed...”
Published 2016
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6by Ghaemi, Nosrat, Hasan Abadi, Hossein, Ashrafzadeh, Farah, Sarvari, Somaye, Rahimi, Hamidreza, Hashemian, Somayyeh“...(HbA1c) level.Methods: The subjects were recruited prospectively upon initial evaluation at a tertiary...”
Published 2018
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7“... of the Children Participation Assessment Scale in activities outside of School–Child version (CPAS-C) in 6-12-year...”
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8“....AbstractObjectiveMany studies have supported the role of protein kinase C (PKC) inhibitors in the physiopathology...”
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10“... of the disease are persistently high level of lactate, and C4–C5-acylcarnitines in blood, markedly elevated...”
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11“... T to G substitution in c.7308-6 position resulting in a novel acceptor splice site in intron 49...”
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12by KARIMZADEH, Parvaneh, KHAYYATZADEH, Simin, ESMAIL NEJAD, Shaghayegh Sadat, HOUSHMAND, Masoud, GHFORANI, MOHAMMAD“..., we did genetic study for AOA1 that showed a homozygous frameshift mutation as c.418_418 del was found...”
Published 2017
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13by KHOSRAVI FARD, Elham, KEELOR, Jennifer L., AKBARZADEH BAGHEBAN, Alireza, KEITH, Robert W.“... educational schedules. References1.C. Gordon Wells. Learning to talk: The pattern of Development. In: C...”
Published 2016
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14“... assessment we detected a novel homozygous mutation c.664A> C (p. Ser 222 Arg) in ACAT gene. This is a...”
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15by Noorbakhsh, Samileh, Joghataei, Mohammad Taghi, Farhadi, Mohammad, Haghighi, Faezeh, Emamjome, Hesamodin, Haghighi Hasanabad, Morteza“... with symptomatic cCMV infection (25.0%; 95% CI: 3-90) and 1 of 14 with asymptomatic cCMV infection (7.1%; 95% CI...”
Published 2022
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16“... epileptic syndrome. Epilepsia 1997;38(8):915-21.Bosemani T, Burton VJ, Felling RJ, Leigh R, Oakley C...”
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17“... complex disease. Autoimmune Dis. 2010; 2011:932351.International Multiple Sclerosis Genetics C, Wellcome...”
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18“.... Epidemiology of holoprosencephaly: Prevalence and risk factors. Am J Med Genet C Semin Med Genet 2010; 154C(1...”
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19“... in the position C.2370 T>G (p. Y790X) in the PLA2G6 gene based on NM_001349864 which has been reported...”
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20“... exome sequencing showednovel c.743_744delTCinsA mutation in the exon 4 of the PEX11β gene. In contrast...”
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