Search Results - "genetic testing"

A toddler with an unusually severe polyarticular arthritis and a lung involvement: a case report by Pietro Basile, Giulia Gortani, Andrea Taddio, Serena Pastore, Federica Corona, Alessandra Tesser, Egidio Barbi, Alberto Tommasini

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Identification of a novel PTH1R variant in a family with primary failure of eruption by Yunchen Zha, Shushu Li, Yue-lin Yu, Zicheng Huang, Hai-ying Zhang, Weidong Kong

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Prader-Willie Syndrome in the Practice of Pediatrician. Modern Approaches to the Diagnosis and Treatment by T.M. Khimenko, A.O. Adakhovska

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Expert consensus on standardized management of tumor gene sequencing for cancer patients by Mengjia Qian, Yanxia Zhan, Lili Ji, Hao Chen, Yunfeng Cheng

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Observational study to calculate addictive risk to opioids: a validation study of a predictive algorithm to evaluate opioid use disorder by Brenton A, Richeimer S, Sharma M, Lee C, Kantorovich S, Blanchard J, Meshkin B

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Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the TRIM8 Gene: A Case Report and Literature Review by Xiaojie Li, Yaqin Wei, Meiqiu Wang, Lili Jia, Zhuo Shi, Xiao Yang, Tao Ju, Qianhuining Kuang, Zhengkun Xia, Zhengkun Xia, Zhengkun Xia, Zhengkun Xia, Chunlin Gao, Chunlin Gao, Chunlin Gao, Chunlin Gao

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An analysis of the distribution and spectrum of alpha thalassemia mutations in Rasht City, North of Iran by Mona Asghari Ahmadabad, Noushin Pourreza, Setareh Ramezanpour, Adel Baghersalimi, Mersedeh Enshaei, Marjan Askari, Amirhossein Alizadeh, Elahe Izadi, Bahram Darbandi

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Comprehensive evaluation of the child with global developmental delays or intellectual disability by Abdullah Nasser Aldosari, T. Saeed Aldosari

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Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology by Zhouxian Bai, Yanchuan Xie, Lina Liu, Jingzhi Shao, Yuying Liu, Xiangdong Kong

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Returning Genetic Information About Risk for Alcohol Use Disorder to Adolescents: Findings of a Preliminary Qualitative Study of Precision Prevention by Elissa R. Weitzman, ScD, MSc, Laura M. Blakemore, BS, Sydney E. Pierce, BA, Joe Kossowsky, PhD, MMSc, Sharon Levy, MD, MPH

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A novel mutation of the MEN1 gene in a patient with multiple endocrine neoplasia type 1 and recurrent fibromyxoid sarcoma - a case report by Maja Radman, Tanja Milicevic

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Scope of practice distinctions based on primary work setting for genetic counselors in assisted reproductive technologies by Alyssa C. Snider, M.S., Ph.D., C.G.C, Lauren J. Isley, M.S., C.G.C, Lauri D. Black, M.S., C.G.C

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Pseudohemangioma of the head - diagnostic difficulties in a pediatric patient with Ewing's sarcoma of the scalp: case report by Joanna Urszula Borowik, Kinga Justyna Kuśmierczuk, Wojciech Brodowski, Katarzyna Anna Kozak, Patryk Jawoszek, Agnieszka Zaucha-Prażmo

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Mitochondrial DNA quantification correlates with the developmental potential of human euploid blastocysts but not with that of mosaic blastocysts by Wen Luo, Yi-Min Zheng, Yan Hao, Ying Zhang, Ping Zhou, Zhaolian Wei, Yunxia Cao, Dawei Chen

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A challenging diagnosis of B-ketothiolase deficiency mimicking type 1 diabetes mellitus by Amal Ali Al-Hakami, Malak Ali Alghamdi, Khalid Sumaily, Reem Abdullah Al-Khalifah

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Decision-making on terminating pregnancy for Muslim Arab women pregnant with fetuses with congenital anomalies: maternal affect and doctor-patient communication by Anat Gesser-Edelsburg, Nour Abed Elhadi Shahbari

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Cost effectiveness of the cancer prevention program for carriers of the BRCA1/2 mutation by Marcelo Cristiano de Azevedo Ramos, Maria Aparecida Azevedo Koike Folgueira, Simone Maistro, Alessandro Gonçalves Campolina, Patricia Coelho de Soárez, Geertruida Hendrika de Bock, Hillegonda Maria Dutilh Novaes, Maria Del Pilar Estevez Diz

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Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements by Jian Ou, Chuanchun Yang, Xiaoli Cui, Chuan Chen, Suyan Ye, Cai Zhang, Kai Wang, Jianguo Chen, Qin Zhang, Chunfeng Qian, Guangguang Fang, Wenyong Zhang

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An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis) by Shao-Jia Mao, Jia Zhao, Zheng Shen, Chao-Chun Zou

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Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features by Daham De Silva, Kathleen A. Williamson, Kavinda Chandimal Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Deepthi De Silva, Harendra De Silva

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