Search Results - "genetic testing"

A case of annular epidermolytic ichthyosis resulting from a de novo mutation, p.I479T, in Keratin 1 Gene by Lihong Chen, Cheng Quan, Jie Zheng, Meng Pan, Xiaoqing Zhao

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THE IMPORTANCE OF SEVERE CYTOLYSIS SYNDROME IN HYPERTROPHIC CARDIOMYOPATHY IN CHILDREN by Flavia-Crist, Amalia Fagarasan

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Nanoparticles in medicine by Paulina Anna Miziak, Marzena Baran, Katarzyna Bonio, Piotr Piech

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NRXN1 Deletion in Two Twins' Genotype and Phenotype: A Clinical Case and Literature Review by Monica Sciacca, Lidia Marino, Giovanna Vitaliti, Raffaele Falsaperla, Silvia Marino

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Orphan Disease: Infantile Systemic Hyalinosis by Ye.V. Ponochevnaia, Ye.N. Okhotnikova, O.F. Zarudniaia, V.T. Leush, Ya.I. Doronina, Ye.I. Usova, I.V. Hedeon

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Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum by Wilker Dias Martins, Elisa França Chaves, Flavia Cristina Gonçalves de Aquino, Sean Brasil de Oliveira, Isabela Dorneles Pasa, Bruno Guimarães Marcarini, Vitor Ribeiro Paes, Chong Ae Kim, Regina Schultz

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Can Genetics Predict Sports Injury? The Association of the Genes GDF5, AMPD1, COL5A1 and IGF2 on Soccer Player Injury Occurrence by Kiah McCabe, Christopher Collins

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ADVANTAGES AND DISADVANTAGES OF SOCIOSCIENTIFIC ISSUE-BASED INSTRUCTION IN SCIENCE CLASSROOMS by Ayşegül Evren Yapıcıoğlu

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Predisposición genética para el cáncer de mama: genes BRCA1 y BRCA2 Genetic predisposition for breast cancer: BRCA1 and BRCA2 genes by Steven A Narod, Adriana A Rodríguez

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Síndrome de Bartter como causa de atraso no crescimento e de surdez neurossensorial by Lorena Lago de Menezes, Luísa Lemos Pimentel, Lavinia Lago de Menezes, Diego Augusto Alves Rosa, Maylon Rudney de Sousa Ferreira

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Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based stud... by Zhiqiang Wang, Liangliang Qiu, Minting Lin, Long Chen, Fuze Zheng, Lin Lin, Feng Lin, Zhixian Ye, Xiaodan Lin, Junjie He, Lili Wang, Xin Lin, Qifang He, Wanjin Chen, Yi Lin, Ying Fu, Ning Wang

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Budget impact model for oncopharmacogenetics from the perspective of mandatory basic health insurance in Switzerland using the example of breast cancer by Szucs TD, Szillat KP, Blozik E

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Effect of Gentamicin Ointment in Patients with Nagashima-type Palmoplantar Keratosis: A Double-blind Vehicle-controlled Study by Yue Li, Xia Yu, Chaolan Pan, Yumeng Wang, Jianwen Han, Zhirong Yao, Ming Li

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A novel mutation in the SLC5A2 gene causing benign renal glucosuria by Sofia Vasconcelos, Francisca Freitas, Alícia Rebelo, Andreia Lopes, Bárbara Pereira

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Compound heterozygous TRMU gene mutations in an infant with transient cholestasis and hyperlactatemia by Barbara Parma, Serena Motta, Erika S. Apuril Velgara, Angelo Selicorni, Lisa Licini, Maurizio Cheli, Lorenzo D'Antiga, Maria Iascone, Emanuele Nicastro, Serena Gasperini

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Dysplasia Epiphysealis Hemimelica (Trevor's Disease) in Children, Two New Cases: Diagnosis, Treatment, and Literature Review by Adelina Ionescu, Bogdan Popescu, Oana Neagu, Madalina Carp, Iulia Tevanov, Laura Balanescu, Radu Ninel Balanescu

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Atypical presentation of pallister-Hall syndrome with central precious puberty by Hala Gasim Omer, Amal Ali Alhakami, Malak Ali Alghamdi, Reem Abdullah Al Khalifah

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Diagnosis of the pancreatic cancer by Przemysław Raczkiewicz, Maria Kalicka, Tomasz Korzec, Konrad Kania, Katarzyna Cyboran

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Delivering pharmacogenetic testing in a primary care setting by Mills R, Voora D, Peyser B, Haga SB

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Congenital Anomalies and Termination of Pregnancy in Iran by Bahram Samadirad, Zhila Khamnian, Mohammad Bager Hosseini, Saeed Dastgiri

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