Search Results - "genetic testing"

Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report by Qiaoping Chen, Yan Cao, Liyun Xu, Jingqi Liu, Xiaochuan Wu

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Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3 by Chinmayee B. Nagaraj, Diana S. Brightman, Hannah Rea, Emily Wakefield, Nina V. G. Harkavy, Lisa Dyer, Wenying Zhang

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Beckwith-Wiedemann Syndrome: deciphering the genetic and clinical complexity - A case report with literature review by Astrit M. Gashi, Brikene Elshani

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Trametinib response in heavily pretreated high-grade ovarian cancer: One step towards precision medicine by Serena Cappuccio, Maria Grazia Distefano, Viola Ghizzoni, Anna Fagotti, Giovanni Scambia

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Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology by Xiuhua Xu, Sijie He, Gang Li, Ziwei Wang, Luyi Lv, Zhiming Zhao, Qian Li, Baojun Shi, Gui-min Hao

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Development and early‐stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient‐driven approach by Samantha Pollard, Deirdre Weymann, Rosalie Loewen, Jennifer Nuk, Sophie Sun, Kasmintan A. Schrader, Chiquita Hessels, Dean A. Regier

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RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR) by Nirosha Kugalingam, Deepthi De Silva, Hiranya Abeysekera, Sriyani Nanayakkara, Shamala Tirimanne, Dinali Ranaweera, Prashanth Suravajhala, Vishvanath Chandrasekharan

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Incontinentia Pigmenti: A Case Report of Early Clinical Symptoms in a Lack of Family Inheritance Positive Result by Yuan F, Zhu FN, Liu XJ, Li J, Xu HT

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Why Breast Cancer Risk by the Numbers Is Not Enough: Evaluation of a Decision Aid in Multi-Ethnic, Low-Numerate Women by Kukafka, Rita, Yi, Haeseung, Xiao, Tong, Thomas, Parijatham, Aguirre, Alejandra, Smalletz, Cindy, David, Raven, Crew, Katherine

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Nomogram based on clinical and laboratory characteristics of euploid embryos using the data in PGT-A: a euploid-prediction model by Xitong Liu

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Multidisciplinary approach to congenital central hypoventilation syndrome during pregnancy: case report by Akinbolaji Akingbola, MD, MS, Ajay S. Kasi, MD, Yasuko Yamamura, MD, Snigdha Pusalavidyasagar, MD, FAASM

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Case report: successful response to bevacizumab combined with erlotinib for a novel FH gene mutation hereditary leiomyoma and renal cell carcinoma by Xiaoming Bai, Dan Xiang, Mengxi Huang, Yitian Chen, Yitian Chen

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Impact of parental chromosomal polymorphisms on the incidence of congenital anomalies and perinatal complications in a cohort of newborns conceived after ICSI + PGT-A by Freddy Rodriguez, Maria Cruz, Antonio Requena

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Diagnosis and Treatment of Monogenic Forms of Diabetes Mellitus: Focus on Mody-Diabetes by K. A. Aitbaev, I. T. Murkamilov, Zh. A. Murkamilova, V. V. Fomin, I. o Kudaibergenova, F. A. Yusupov

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Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes by Birch Rachael, Clayton-Smith Jill, Ramsden Simon C, Buiting Karin

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Acardiac Twinning (Twin Reversed Arterial Perfusion Sequence): A Review of Prenatal Management by Chih-Ping Chen

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Mimicking Hypoxic-Ischemic Encephalopathy in a Newborn with 21q Deletion Originating from Ring Chromosome 21 by Ja Un Moon, Sook Kyung Yum

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Etiological analysis of 167 cases of drug-resistant epilepsy in children by Ran-Ran Zuo, Mei Jin, Su-Zhen Sun

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Exploring the Relationship between Psoriasis and Pregnancy: A Systematic Literature Review by Pratiksha Patra

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Polyhydramnios and abnormal foetal heart rate patterns in a foetus with Prader-Willi syndrome: A case report by Tsuyoshi Murata, Toma Fukuda, Aya Kanno, Hyo Kyozuka, Akiko Yamaguchi, Hiromi Shimizu, Takafumi Watanabe, Keiya Fujimori

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