Search Results - "genetic testing"

Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report by Gug C, Mihaescu A, Mozos I

Connect to this object online.

Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report by Qin Chen, Fang Lu

Connect to this object online.

Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultra... by Cuixia Guo, Tiejuan Zhang, Ying Ma, Song Yue, Lijuan Sun

Connect to this object online.

Russel - Silver syndrome a 7-month-old child: case report by N.R. Khafizova, D.R. Merzlyakova, Yu.F. Safina

Connect to this object online.

Hydrops fetalis: Incidence, Etiologies, Management Strategies, and Outcomes by Younge T, Ottolini KM, Al-Kouatly HB, Berger SI

Connect to this object online.

A rare case of superior sagittal sinus thrombosis resulting in the death of a 16-year-old with factor V Leiden, prothrombin G20210A mutation, and oral contraceptive use by Erik Washburn, Mayyadah Al-Nuaimi, Priti Soin, Charles S. Specht

Connect to this object online.

A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma Variation by Ami Shah, Shilpa Kulkarni, Snehal Mallakmir, Rashid Merchant

Connect to this object online.

Access to precision medicine in Thailand: a comparative study by Nisita Jirawutkornkul, Chanthawat Patikorn, Puree Anantachoti

Connect to this object online.

The clinical use of time-lapse in human-assisted reproduction by Maria Giulia Minasi, Pierfrancesco Greco, Maria Teresa Varricchio, Paolo Barillari, Ermanno Greco

Connect to this object online.

Case Report: The Monogenic Familial Steroid-Resistant Nephrotic Syndrome Caused by a Novel Missense Mutation of NPHS2 Gene A593C in a Chinese Family by Ling Bai, Jing Zhuang, Changrong Zhang, Chen Lu, Xuefei Tian, Hong Jiang

Connect to this object online.

The search for a unifying diagnosis involving neurological, endocrine and immune dysfunction: a case report of a novel presentation of DAVID syndrome by M. Price, P. L. Hofman, K. Hsiao, H. F. Jones

Connect to this object online.

A Successful Case for Deselection of Albino Embryo and Live Birth of Albinism-Free Healthy Baby Followed by PGT-M by Nayana Patel, Harsha K Bhadarka, Salil Vaniawala, Arpita Patel

Connect to this object online.

Development of a novel measure of advanced cancer patients' perceived utility of secondary germline findings from tumor genomic profiling by Jada G. Hamilton, Ibrahim H. Shah, Caroline Salafia, Elizabeth Schofield, Margaux Genoff Garzon, Kechna Cadet, Zsofia K. Stadler, Jennifer L. Hay, Kenneth Offit, Mark E. Robson

Connect to this object online.

The Pheochromocytoma - diagnosis and treatment, review of literature by Bartosz Skierkowski, Alicja Baranowska, Katarzyna Baranowska, Filip Czyżewski, Kinga Filipek, Jakub Kawka, Michał Muciek, Sebastian Mrugała, Waldemar Mrugała, Natalia Zalewska

Connect to this object online.

First case of endometrial cancer after yolk sac tumor in a patient with Li-Fraumeni syndrome by Qiu-Lin Ye, Yue Qi, Juan-Juan Liu, Yue-Xin Hu, Yuan Lv, Bei Lin

Connect to this object online.

Disclosing Pharmacogenetic Feedback of Caffeine via eHealth Channels, Assessment of the Methods and Effects to Behavior Change: A Pilot Study by Kerti Alev, Andres Kütt, Margus Viigimaa

Connect to this object online.

Aspectos éticos dos testes preditivos em doenças de manifestação tardia Ethical aspects of predictive tests for late-onset disorders by Alvaro Angelo Salles

Connect to this object online.

Russel - Silver syndrome a 7-month-old child: case report by N.R. Khafizova, D.R. Merzlyakova, Yu.F. Safina

Connect to this object online.

Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience by Serap Bilge, Gülen Gül Mert, Özlem Hergüner, Duygu Özcanyüz, Sevcan Tuğ Bozdoğan, Ömer Kaya, Cengiz Havalı

Connect to this object online.

TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation by Iliyana Hristova Pacheva, Iliyana Hristova Pacheva, Tihomir Todorov, Ivan Ivanov, Ivan Ivanov, Desislava Tartova, Katerina Gaberova, Albena Todorova, Albena Todorova, Diana Dimitrova

Connect to this object online.