Search Results - "genetic testing"

Leveraging innovative technology to generate drug response phenotypes for the advancement of biomarker‐driven precision dosing by Akinyemi Oni‐Orisan, Nithya Srinivas, Krina Mehta, Jesmin Lohy Das, Thu T. Nguyen, Geoffrey H. Tison, Scott R. Bauer, Maria Burian, Ryan S. Funk, Richard A. Graham, Biomarkers and Translational Tools Community Working Group of the American Society for Clinical Pharmacology and Therapeutics

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Ischemic stroke in a pediatric patient - a case report by Aneta Głaz, Kinga Knop, Anna Kochanowska, Karol Nowicki-Sak, Magdalena Woźniak

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Meckel Syndrome: Genetics, Perinatal Findings, and Differential Diagnosis by Chih-Ping Chen

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Characteristics of Glycemic Variability in Patients with GCK-MODY by A. K. Ovsyannikova, M. V. Dudina, Yu. A. Dolinskaya, O. D. Rymar

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Dziedziczne podłoże czerniaka - wyniki badań własnych na tle piśmiennictwa by Tadeusz Dębniak, Romuald Maleszka, Jan Lubiński

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Left Ventricular Non-compaction Cardiomyopathy and Polycystic Kidney Disease Revealed by Inappropriate Polycythemia: A Fortuitous Association? Case Report by Hodorogea Andreea Simona, Dan Gheorghe Andrei Cristian, Pârvu Irina, Nanea Ioan Tiberiu, Gheorghe And Gabriela Silvia

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Pediatric epidermolysis bullosa - psychosocial impact and the importance of palliative care based on 5 clinical cases by Inês Pais-Cunha, Paula Guerra, Alice Porto-, Laura Leite-Almeida, Nuno Gomes, Alberto Mota, Irene Carvalho

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Role of Mannose-binding Lectin and Association with Microbial Sensitization in a Cohort of Patients with Atopic Dermatitis by Emma Belfrage, Camilla L. Jinnestål, Andreas Jönsen, Anders Bengtsson, Anna Åkesson, Artur Schmidtchen, Andreas Sonesson

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Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations by Reem Albalawi MSc, Ehab Hanafy MD, Haifa Alnafea PhD, Mohammed Altowijiry MD, Shaima Riyad MD, Fadwa Abufara MD, Naif Albolowi MD

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Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk by Zhiqing Wang, Shu Liu, Siping Liu, Yadong Wang, Junsheng Chen, Baoping Wu

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Fetal Wilm's tumor detection preceding the development of isolated lateralized overgrowth of the limb: a case report and review of literature by Elie Bechara, Elie Bechara, Chloé Saadé, Caroline Geagea, Daniel Charouf, Pauline Abou Jaoude, Pauline Abou Jaoude

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Barriers and facilitators to dissemination and adoption of precision medicine among Hispanics/Latinos by Juan R. Canedo, Consuelo H. Wilkins, Nicole Senft, Araceli Romero, Kemberlee Bonnet, David Schlundt

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Mutation in the <i>STXBP1</i> Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review by Kanako Takeda, Yusaku Miyamoto, Hisako Yamamoto, Toshiyuki Iwasaki, Noriko Sumitomo, Eri Takeshita, Atsushi Ishii, Shinichi Hirose, Naoki Shimizu

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A national-wide survey on clinical implementation of PGx testing into precision therapeutics for Chinese children: a long way before standard clinical practice by Wen-wen Wu, Hong-Li Guo, Yue Li, Ya-Hui Hu, Huan He, Jing Xu, Xiao-ling Wang, Feng Chen

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Coeliac disease in infants: antibodies to deamidated gliadin peptide come first! by Michele Arigliani, Francesca Rech Morassutti, Martina Fabris, Paola Melli, Elio Tonutti, Paola Cogo

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Women's constructions of the 'right time' to consider decisions about risk-reducing mastectomy and risk-reducing oophorectomy by Howard A Fuchsia, Bottorff Joan L, Balneaves Lynda G, Kim-Sing Charmaine

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The Management of Phaeochromocytomas and Paragangliomas in the Era of Precision Medicine: Where Are We Now? Evidence-Based Systemic Treatment Options and Future Cluster Oriented Pe... by Alessandra Bracigliano, Antonella Lucia Marretta, Luigi Pio Guerrera, Roberto Simioli, Ottavia Clemente, Vincenza Granata, Anita Minopoli, Giuseppina Della Vittoria Scarpati, Fernanda Picozzi, Lucia Cannella, Antonio Pizzolorusso, Francesca Di Gennaro, Roberto Tafuto, Maria Rosaria Sarno, Ernesta Cavalcanti, Dario Ribera, Salvatore Tafuto

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The diagnosis and management of patients with idiopathic osteolysis by Hofstaetter Jochen G, Maurer Kathrin, Biedermann Rainer, Scholl-Buergi Sabine, Al Kaissi Ali, Klaushofer Klaus, Grill Franz

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A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness by Tiziana Coppola, Bradford Becken, Heather Van Mater, Marie Theresa McDonald, Gabriela Maradiaga Panayotti

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Case Report: effect of lumasiran treatment in a late preterm baby with antenatal diagnosis of primary hyperoxaluria type 1 by Francesca Taroni, Alfredo Berrettini, Michele Gnech, Francesca Rella, Gian Antonio Manzoni, Giovanni Montini, Giovanni Montini

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