Search Results - "genetic counseling"

Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose? by Xiaoyi Cong, Tong Zhang, Zhenming Li, Xiaojin Luo, Liang Hu, Weiqiang Liu

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Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency by Taimí Barrueta Ordóñez, Teresa Collazo Mesa, Paulina Lantigua Cruz, Adrián de Jesús González Navarro, Tania Espinosa Reyes

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A Case Report of Pregnancy Complicated with Primary Hemophagocytic Lymphohistiocytosis by Chen Y, Huang X, Chen H, Tong J, Huang L, Su J, Deng L

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Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene by Yuqing Xu, Yuqing Xu, Linyan Zhu, Yeqing Qian, Yeqing Qian, Minyue Dong, Minyue Dong

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Lowe syndrome: a single center's experience in Korea by Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

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MECHANISMS OF ACUTE FATTY LIVER PREGNANCY: AN UP-DATE by Елена Ивановна Паличева, Дмитрий Анатольевич Артымук

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Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3 by Fang Zhang, Hongmei Guo, Xinlong Zhou, Zhengxi Deng, Qiuhong Xu, Qingming Wang, Haiming Yuan, Jianhua Luo

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Insuficiencia ovárica prematura: una revisión by Karina Juárez R, Ricardo Lara A, José García O

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Evaluation of Selected CYP51A1 Polymorphisms in View of Interactions with Substrate and Redox Partner by Tadeja Režen, Iza Ogris, Marko Sever, Franci Merzel, Simona Golic Grdadolnik, Damjana Rozman

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A Systematic Review on the Existing Screening Pathways for Lynch Syndrome Identification by Alessia Tognetto, Maria Benedetta Michelazzo, Giovanna Elisa Calabró, Brigid Unim, Marco Di Marco, Walter Ricciardi, Walter Ricciardi, Roberta Pastorino, Stefania Boccia

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Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients by Boushra Khaled, Mahmoud Alzahayqa, Ahmad Jaffal, Husam Sallam, Rua'a Thawabta, Mamoun Mansour, Akram Alian, Zaidoun Salah

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Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report by Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai

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A novel homozygous HES7 splicing variant causing spondylocostal dysostosis 4: a case report by Shaoguang Lv, Yuanyuan Wu, Fang Liu, Baoquan Jiao

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Sickle Cell Disease Team-Based Learning Module by Roderick Hori, Patricia Adams-Graves, Satoru Nishimoto, Russell Chesney, William Brescia

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Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) inherited from her mosaic sSMC(15) mother and a literature review by Mei-Ling Sun, Hong-Guo Zhang, Xiang-Yin Liu, Fa-Gui Yue, Yu-Ting Jiang, Shi-Bo Li, Rui-Zhi Liu

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Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome by Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Schu-Rern Chern, Chen-Yu Chen, Jun-Wei Su, Wayseen Wang

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BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan. by Ainur R. Akilzhanova, Bagdat Nyshanbekkyzy, Zhannur M. Nurkina, Ivan I. Shtephanov, Abay K. Makishev, Tasbolat A. Adylkhanov, Tolebay K. Rakhypbekov, Erlan M. Ramanculov, Kuvat T. Momynaliev

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Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators by Guanhua Qian, Liuyun Cai, Hong Yao, Xiaojing Dong

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Neonatal retinoblastoma by Tero T Kivelä, Theodora Hadjistilianou

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An atypical case of Noonan syndrome with mutation diagnosed by targeted exome sequencing by Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin

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