खोज परिणाम - "homozygous"

Identification of a Novel Mutation in an Iranian Family With 17-β Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Series द्वारा Abolfazl Heidari, Ali Homaei, Fatemeh Saffari

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Possible NK cell-mediated immune responses against iPSC-derived cells in allogeneic transplantation settings द्वारा Kyoko Masuda, Hiroshi Kawamoto

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Lafora disease: A case report, pathologic and genetic study द्वारा M H Harirchian, E Esmailee Shandiz, J Turnbull, B A Minassian, R Shahsiah

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Congenital dyserythropoietic anemia masquerading as hereditary spherocytosis द्वारा Kaninika Sanyal, K. Jai Kumar, Mrinalini Kotru, Mukul Aggarwal, Pooja Dewan

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A novel splice site mutation in anthrax toxin receptor 2 (Capillary morphogenesis protein 2) gene results in systemic hyalinosis द्वारा Indhra Priyadharshini, Sirisha Varala, Tallapaka Karthik Bharadwaj, Ananthula Venkata Krishna

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Splenomegaly, Cardiomegaly, and Osteoporosis in a Child with Gaucher Disease द्वारा J. J. Sheth, C. M. Ankleshwaria, M. A. Mistri, N. Nanavaty, S. J. Mehta

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Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case द्वारा Maria Elena Romero-Ibarguengoitia MD, MS, PhD, Consuelo Cantú-Reyna MD, MS, Dalia Gutierrez-González MD, Héctor Cruz-Camino BS, Arnulfo González-Cantú MD, MSC, Miguel Angel Sanz Sánchez MD

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Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene द्वारा Ji Sook Kim

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The study of normal pregnancy in women with hereditary thrombophilia द्वारा M. V. Khruslov, S. N. Zhabin, M. I. Boeva, I. V. Ivanov, I. V. Pashina, S. A. Avagova

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Review on Haploid and Double haploid Maize (Zea mays) breeding technology द्वारा Takele Mitiku

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Dopamine DRD4 gene polymorphism as a risk factor for epilepsy in autism spectrum disorder द्वारा Mariane Wehmuth, Sérgio A Antoniuk, Karine Bittencourt da Silva, Salmo Raskinb, Adriana de Oliveira Christoff, Henrique Ravanhol Frigeri, Suelen Lucio Boschen de Souza, Liya Regina Mikami, Lilian Pereira Ferrari

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Variants of MIRNA146A rs2910164 and MIRNA499 rs3746444 are associated with the development of cutaneous leishmaniasis caused by Leishmania guyanensis and with plasma chemokine IL-8... द्वारा Tirza Gabrielle Ramos de Mesquita, José do Espírito Santo Junior, Thais Carneiro de Lacerda, Krys Layane Guimarães Duarte Queiroz, Cláudio Marcello da Silveira Júnior, José Pereira de Moura Neto, Lissianne Augusta Matos Gomes, Mara Lúcia Gomes de Souza, Marcus Vinitius de Farias Guerra, Rajendranath Ramasawmy

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CYP2C9 Variations and Their Pharmacogenetic Implications Among Diverse South Asian Populations द्वारा Nizamuddin S, Dubey S, Singh S, Sharma S, Machha P, Thangaraj K

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Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province द्वारा Haiyan Luo, Yan Yang, Xinrong Wang, Fangping Xu, Cheng Huang, Danping Liu, Liuyang Zhang, Ting Huang, Pengpeng Ma, Qing Lu, Shuhui Huang, Bicheng Yang, Yongyi Zou, Yanqiu Liu

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A Phase 1, Randomized, Double-Blind, Single-Dose, Placebo-Controlled Safety, Tolerability, And Pharmacokinetic/Pharmacodynamic Study Of Evolocumab In Healthy Chinese Subjects द्वारा Liu C, Lu H, Yuan F, Chen WL, Xu HR, Li H, Hsu CP, Egbuna O, Wu J, Dias C, Abosaleem B, Rana J, Monsalvo ML, Li XN, Yu Z

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Association of single-nucleotide variants of the orsomucoid-1-like protein 3 gene with phenotypes of atopic march in children द्वारा V.O. Dytiatkovskyi

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Prevalence of the CYP2D6*10 (C100T), *4 (G1846A), and *14 (G1758A) alleles among Iranians of different ethnicities द्वारा Bagheri A, Kamalidehghan B, Haghshenas M, Azadfar P, Akbari L, Sangtarash MH, Vejdandoust F, Ahmadipour F, Meng GY, Houshm, M

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Clinical Value of Pharmacogenomic Testing in a Patient Receiving FOLFIRINOX for Pancreatic Adenocarcinoma द्वारा Lisa M. Velez-Velez, Caren L. Hughes, Pashtoon Murtaza Kasi

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Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk द्वारा Kyung Lae Cho, Yeo Jin Kim, Song Hyun Yang, Gu-Hwan Kim, Jun Hwa Lee

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Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency द्वारा Ashlee J. Conway, Fiona C. Brown, Elinor J. Hortle, Gaetan Burgio, Simon J. Foote, Craig J. Morton, Stephen M. Jane, David J. Curtis

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