Search Results - "genetic testing"

Congenital RYR1-Associated Myopathies by J Gordon Millichap

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Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene by Ji-Hee Yoon, Soojin Hwang, Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

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Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency by Jayakrishna Tippabathani, Venu Seenappa, Alagupandian Murugan, Nagaraja Mahishi Phani, Mahesh H. Hampe, Giridharan Appaswamy, Prakash Sadashiv Gambhir

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Premature Stroke Secondary to Severe Hypertension Results from Liddle Syndrome Caused by a Novel SCNN1B Mutation by Peng Fan, Di Zhang, Xiao-Cheng Pan, Kun-Qi  Yang, Qiong-Yu Zhang, Yi-Ting Lu, Ying Zhang, Xue-Ying Liu, Wen-Jun Ma, Hui-Min Zhang, Lei Song, Jun Cai, Ya-Xin Liu, Xian-Liang Zhou

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Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants by Junfang Xue, Linyi Xie, Qiuchen Zheng, Fen Xiong, Xiedong Wu, Jialin Fan, Yang Zhang, Dayong Wang, Qiujing Zhang, Qiuju Wang

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Sperm deoxyribonucleic acid fragmentation index at the time of intracytoplasmic sperm injection and standard in vitro fertilization is correlated with lower fertilization but not w... by Alicia L. Broussard, Ph.D., H.C.L.D, Benjamin Leader, M.D, Edna Tirado, Ph.D, Helena Russell, M.S, Hind Beydoun, Ph.D, Robert Colver, M.D, Laura Reuter, M.D, Bradford Bopp, M.D, Matthew Will, M.D, Erica Anspach Will, M.D, Glen Adaniya, Ph.D., H.C.L.D

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Incidence of first trimester pregnancy loss in the infertile population during the first wave of the coronavirus disease 2019 pandemic in New York City by Pietro Bortoletto, M.D, Phillip A. Romanski, M.D, Joshua Stewart, M.D, Zev Rosenwaks, M.D, Samantha M. Pfeifer, M.D

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Comparison of aneuploidy rates between conventional in vitro fertilization and intracytoplasmic sperm injection in in vitro fertilization-intracytoplasmic sperm injection split ins... by Jie Deng, M.D., Ph.D, Olutunmike Kuyoro, M.D, Qianying Zhao, M.S, Barry Behr, Ph.D, Ruth B. Lathi, M.D

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A Case Report of Hemiplegic Migraine with Mutation in the ATP1A2 Gene by Guan DM, Shan YZ, Zhao HT, Meng Y, Yan ZR, Zhang HL

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Knowledge, awareness, and attitude of medical students concerning genetics and premarital screening by Syed Sameer Aga, Yara Abdulaziz Alghamdi, Amal Abdullah Alghamdi, Muhammad Anwar Khan

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A Health Information Quality Assessment Tool for Korean Online Newspaper Articles: Development Study by Naae Lee, Seung-Won Oh, Belong Cho, Seung-Kwon Myung, Seung-Sik Hwang, Goo Hyeon Yoon

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Does smooth endoplasmic reticulum aggregation in oocytes impact the chromosome aneuploidy of the subsequent embryos? A propensity score matching study by Meng Wang, Limin Gao, Qiyu Yang, Rui Long, Yini Zhang, Lei Jin, Lixia Zhu

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Infantile Hypophosphatasia: Clinical Case by Tatyana V. Gabrusskaya, Yana V. Panutina, Maria O. Revnova, Mikhail M. Kostik

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Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms by Hui Zhang, Jian Gao, Hanjun Wang, Mengli Liu, Shuangshuang Lu, Hongen Xu, Wenxue Tang, Guoxi Zheng

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Mental Health Prescribers’ Perceptions on the Use of Pharmacogenetic Testing in the Management of Depression in the Middle East and North Africa Region by Aboelbaha S, Zolezzi M, Abdallah O, Eltorki Y

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Which attributes of whole genome sequencing tests are most important to the general population? Results from a German preference study by Plöthner M, Schmidt K, Schips C, Damm K

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Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature by Fatma Mabrouk Ali, Jieyu Zhou, Mingyan Wang, Qiuxia Wang, Lulu Sun, Mansour Maulid Mshenga, Hongyan Lu

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Prescribers and patients drive maintenance therapy patterns in a community oncology practice: National guidelines versus the real-world experience by Dana M. Chase, Laura Iadeluca, Jonathan Lim, Wan-Yu Tseng, Purva Bulsara, Gregory Patton

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Diagnosis and Screening of Patients with Fabry Disease by Vardarli I, Rischpler C, Herrmann K, Weidemann F

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Towards a better understanding of preimplantation genetic screening for aneuploidy: insights from a virtual trial for women under the age of 40 when transferring embryos one at a t... by Paul N. Scriven

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