Search Results - "genetic testing"

CYP2C9, CYPC19 and CYP2D6 gene profiles and gene susceptibility to drug response and toxicity in Turkish population by Merve Arici, Gül Özhan

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First Baby Born in Brazil after Simultaneous Diagnosis through Non-Invasive and Conventional PGT-A by Marcos Iuri Roos Kulmann, Márcia Riboldi, Carolina Martello, Adriana Bos-Mikich, Gerta Frantz, Caroline Dutra, Luiza Mezzomo Donatti, Norma Oliveira, Nilo Frantz

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Health status in patients at risk of inherited arrhythmias and sudden unexpected death compared to the general population by Nordin Karin, Eide Geir, Hamang Anniken, Rokne Berit, Bjorvatn Cathrine, Øyen Nina

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IJCM_83A: Primary Ciliary Dyskinesia in a child by Vasundhara J, Bhat Kamalakshi

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Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus by Enver Şimşek, Oğuz Çilingir, Tülay Şimşek, Sinem Kocagil, Ebru Erzurumluoğlu Gökalp, Meliha Demiral, Çiğdem Binay

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The influence of experiential knowledge and societal perceptions on decision-making regarding non-invasive prenatal testing (NIPT) by Sophie Montgomery, Zaneta M. Thayer

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Familial Mediterranean fever in Armenian children with inflammatory bowel disease by Gayane Amaryan, Gayane Amaryan, Tamara Sarkisian, Tamara Sarkisian, Artashes Tadevosyan, Christian Braegger

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Time associations between U.S. birth rates and add-Ons to IVF practice between 2005-2016 by Norbert Gleicher, Lyka Mochizuki, David H. Barad

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Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report by Bin Rubaian NF, Al-Awam BS, Alluhaybi AH, Alsaati AA

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Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies by Virginia Mirra, Virginia Mirra, Claudius Werner, Francesca Santamaria, Francesca Santamaria

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Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas and DICER1 Mutations: Case Report and Literature Review by Ni Y, Zhou X, Wu L, Wu P, Liu Y, Li Y, Cai L, Fu X, Zhang C

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Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma by Losonczy Gergely, Fazakas Ferenc, Pfliegler György, Komáromi István, Balázs Erzsébet, Pénzes Krisztina, Berta András

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Can expelled cells/debris from a developing embryo be used for PGT? by Adva Aizer, Noa Harel-Inbar, Hagit Shani, Raoul Orvieto

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A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth by Ju Sun Heo, Ka Young Choi, Se Hyoung Sohn, Curie Kim, Yoon Joo Kim, Seung Han Shin, Jae Myung Lee, Juyoung Lee, Jin A Sohn, Byung Chan Lim, Jin A Lee, Chang Won Choi, Ee-Kyung Kim, Han-Suk Kim, Beyong Il Kim, Jung-Hwan Choi

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Postural-motor development, spinal range of movement and caregiver burden in Prader-Willi syndrome-associated scoliosis: an observational study by Maria Chiara Maccarone, Mariarosa Avenia, Stefano Masiero

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Frequency of Fabry disease in a juvenile idiopathic arthritis cohort by Luciana Paim-Marques, Amanda Virginia Cavalcante, Islane Verçosa, Paula Carneiro, Marcia Souto-Maior, Erlane Marques, Simone Appenzeller

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Cloacal exstrophy variant in a female: A case report by Shelley Warner, Luciana Lerendegui, Monica D. Chow, David Lasko, Miguel Castellan, Felipe Pedroso

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Clinical and genetic evaluation of children with short stature of unknown origin by Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo Ban

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The impact of first-trimester subchorionic hematomas on pregnancy outcomes after euploid embryo transfer: a retrospective cohort study by Weilin Wang, Qing Zhao, Yingbo Liu, Ling Guo, Wei Zhou, Qian Zhang, Junhao Yan, Tianxiang Ni

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Comparison of variants in TPMT and NUDT15 between sequencing and genotyping methods in a multistate pediatric institution by Kelsey J. Cook, Victoria Grusauskas, Lucy Gloe, Benjamin Q. Duong, Renee C. Gresh, E. Anders Kolb, Manisha Bansal, Allison S. Bechtel, Ramamoorthy Nagasubramanian, Susan M. Kirwin, Kathryn V. Blake, Nathan D. Seligson

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