Search Results - "genetic testing"

Genetics and sport performance: current challenges and directions to the future by João Paulo Limongi França GUILHERME, Aline Cristina Capparelli TRITTO, Kathryn Nance NORTH, Antonio Herbert LANCHA JUNIOR, Guilherme Giannini ARTIOLI

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The Progress and Future of US Newborn Screening by Michael S. Watson, Michele A. Lloyd-Puryear, R. Rodney Howell

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An Under-Recognized Disease: A Rare Case of Idiopathic CD4 Lymphopenia Mislabeled as Primary Ciliary Dyskinesia by Fatimah Bukhamseen, Abdullah Al-Shamrani

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Genetics in public health by Shilpa Rai, Gunjan Kumar, Vinay Suresan, Alok Kumar Sethi, Vidya Bhushan

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A case of spinal muscular atrophy type 2 in a child: a genetic condition rarely detected in primary care / Siti Mariam Abu Hussain ... [et al.] by Abu Hussain, Siti Mariam, Shibraumalisi, Nur Amirah, Miptah, Hayatul Najaa, Ramli, Anis Safura

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Features of Diagnostics and Course of Hypertrophic Cardiomyopathy in Real Clinical Practice by E. V. Reznik, T. L. Nguyen, M. S. Dikaeva, I. O. Sirenova, A. V. Salikov, O. V. Gavrylova, E. N. Platonova, G. N. Golukhov

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Mammographies The Cultural Discourses of Breast Cancer Narratives by DeShazer, Mary K.

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Testing Knowledge Toward an Ecology of Diagnosis, Preceded by the Dingdingdong Manifesto by Solhdju, Katrin

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A Case of William's Syndrome in a Ugandan Child: A Feasible Diagnosis Even in a Low-Resource Setting by Massimo Mapelli, Paola Zagni, Valeria Calbi, Aliku Twalib, Roberto Ferrara, Piergiuseppe Agostoni

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Bilateral ovarian fibromas as the sole manifestation of Gorlin syndrome in a 22-year-old woman: a case report and literature review by Menghan Zhu, Jun Li, Jie Duan, Jing Yang, Weiyong Gu, Wei Jiang

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Sertoli-Leydig cell tumor with DICER1 mutation by Shae N. Jansen, Samantha L. McCarty, Lisa M. Landrum

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Congenital Myopathy Due to RyR1 Gene Mutation in a Newborn Masquerading as a Consequence of Hypoxic-ischemic Encephalopathy by Yamini Patial, Rohit Anand

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Metastasis of Pregnancy-Associated Breast Cancer (Suspected to Be Hereditary Breast and Ovarian Cancer) to the Brain, Diagnosed at 18 Weeks' Gestation: A Case Report and Review of... by Tomohiro Okuda, Sakura Yamamoto, Seiki Matsuo, Hisashi Kataoka, Jo Kitawaki

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Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers by Annie D. Niehaus MD, Holly Cooper MD, Chung U. Lee MD

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Doenças raras: o que o pediatra necessita saber by Maria Goretti Moreira Guimarães Penido, Maria Helena Vaisbich, Lilian Monteiro Pereira Palma, Nilzete Liberato Bresolin

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A case study of the utilization of clozapine treatment for treatment‐resistant schizophrenia associated with 22q11.2 deletion syndrome by Arisa Tsurue, Hideki Funahashi, Keiichi Tsurue, Masahiko Kawano, Yasushi Ishida, Yoji Hirano

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Genetic obesity: an update with emerging therapeutic approaches by Young Bae Sohn

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The role of ultrasound in women with a positive NIPT result for trisomy 18 and 13 by Li Zhen, Yu-Juan Li, Yan-Dong Yang, Dong-Zhi Li

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A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1 by Mohammed Ayed Huneif, Ziyad Hamad Alhazmy, Anas M. Shoomi, Mohammed A. Alghofely, Humariya Heena, Aziza M. Mushiba, Abdulhamid Alsaheel

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A patient with ischemic stroke and myocardial infarction undergoing interventional treatment - a case report by Iwona Rutkowska, Agnieszka Górska, Remigiusz Sokołowski, Magdalena Konieczna-Brazis, Milena Świtońska, Paulina Sobieszak-Skura, Walery Zukow, Violetta Palacz-Duda

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