Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Counseling and KIT[original query] |
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| New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy. Genetic testing and molecular biomarkers 2011 May 15 (5): 319-26. Gonçalves-Rocha Miguel, Oliveira Jorge, Rodrigues Luísa, Santos Rosár |
| Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia. Indian journal of endocrinology and metabolism 2012 May 16 (3): 384-8. Marumudi Eunice, Sharma Arundhati, Kulshreshtha Bindu, Khadgawat Rajesh, Khurana Madan L, Ammini Ariachery |
| Detection of CFTR mutations using PCR/ARMS in a sample of Algerian population. Annales de biologie clinique 0 72 (5): 549-54. Sediki Fatima Zohra, Radoui Abdelkarim, Cabet Faiza, Zemani-Fodil Faouzia, Saidi-Mehtar Nadhira, Boudjema Abdall |
| Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2015 9 (3): 136-43. Serra Alexandre, Denzer Friederike, Hiort Olaf, Barth Thomas F, Henne-Bruns Doris, Barbi Gotthold, Rettenberger Günther, Wabitsch Martin, Just Walter, Leriche Clothil |
| Value of a molecular screening program to support clinical trial enrollment in Asian cancer patients: The Integrated Molecular Analysis of Cancer (IMAC) Study. International journal of cancer 2018 05 142 (9): 1890-1900. Heong Valerie, Syn Nicholas L, Lee Xiao Wen, Sapari Nur Sabrina, Koh Xue Qing, Adam Isa Zul Fazreen, Sy Lim Joey, Lim Diana, Pang Brendan, Thian Yee Liang, Ng Lai Kuan, Wong Andrea L, Soo Ross Andrew, Yong Wei Peng, Chee Cheng Ean, Lee Soo-Chin, Goh Boon-Cher, Soong Richie, Tan David S |
| CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations. Journal of reproduction & infertility 0 19 (1): 3-9. Karimi Nasibeh, Alibakhshi Reza, Almasi Shekouf |
| Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability. Gene 2018 5 667 45-55. Peycheva Valentina, Kamenarova Kunka, Ivanova Neviana, Stamatov Dimitar, Avdjieva-Tzavella Daniela, Alexandrova Iliana, Zhelyazkova Sashka, Pacheva Iliana, Dimova Petya, Ivanov Ivan, Litvinenko Ivan, Bozhinova Veneta, Tournev Ivailo, Simeonov Emil, Mitev Vanyo, Jordanova Albena, Kaneva Rad |
| [Mutation analysis and early pregnancy prenatal diagnosis for two families affected with non-syndromic hearing loss]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2018 11 32 (20): 1572-1574;1593. Guo F F, Cheng L, Xu Y, Zhang J F, Li C Y, Zheng |
| A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing. Molecular genetics & genomic medicine 2019 7 7 (9): e897. Qiao Fengchang, Wang Chen, Luo Chunyu, Wang Yan, Shao Binbin, Tan Jianxin, Hu Ping, Xu Zhengfe |
| Frequencies and hematological manifestations of the HK?? allele in southern Chinese population. International journal of clinical and experimental pathology 2020 1 12 (8): 3058-3062. Zhang Min, Huang Hailong, Chen Meihuan, Chen Lingji, Wang Yan, Lin Na, Lin Yuan, Xu Liang |
| The gene spectrum of thalassemia in Yangjiang of western Guangdong Province. Frontiers in genetics 2023 3 14 1126099. Liang Hong-Feng, Liang Wei-Min, Xie Wen-Guang, Lin Fen, Liu Li-Li, Li Lie-Jun, Ge Yi-Yuan, Lu Min, Liao Yu-Wei, Zeng Guang-Kuan, Yao Jin-Xiu, Situ Jing-Wei, Yang Li- |
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