Search Results - "genetic counseling"

Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review by Gang Zhang, Min Xu, Tingting Huang, Wenxin Lin, Jinglin Chen, Wangyang Chen, Xingzhi Chang

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A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review by Wen Zhou, Peilin Zhao, Jian Gao, Yunjian Zhang

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Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention by Hongli Liu, Xiaoli Wei, Yanwei Sha, Wensheng Liu, Haijie Gao, Jin Lin, Youzhu Li, Yaling Tang, Yifeng Wang, Yanlong Wang, Zhiying Su

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Case Report: Early presentation of hereditary angioedema symptoms in a 2-year-old boy by Jurate Staikuniene-Kozonis, Jurate Staikuniene-Kozonis, Juste Staikunaite, Juste Staikunaite, Edita Gasiuniene, Justina Sematonyte

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Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels by Bendahl Pär-Ola, Carlsson Christina, Domanska Katarina, Nilbert Mef

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Prevalence and Genetic Analysis of α- and β-Thalassemia and Sickle Cell Anemia in Southwest Iran by Forozan H. Nezhad, Khojasteh H. Nezhad, Parastoo M. Choghakabodi, Bijan Keikhaei

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Three Siblings with Cohen Syndrome and a Novel Vacuolar Protein Sorting 13 Homolog B Mutation by Naseer Yousuf Mir, Altaf Hussain, Khurshid Ahmad Wani, Sanjeet Singh, Ummar M Bhat

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Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report by Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau, Abdelaziz Sefiani

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Genetic testing in clinical pediatric practice by Han Wook Yoo

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First-trimester prenatal diagnosis of Ellis-van Creveld syndrome by Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang

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Family Aggregation and Risk Factors for Breast Cancer in Affected Individuals by Julio Armando Sánchez Delgado, Nailé Edita Sánchez Lara

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Prenatal diagnosis and molecular genetic analysis of recurrent trisomy 18 of maternal origin in two consecutive pregnancies by Chih-Ping Chen, Fang-Tzu Wu, Chian-Huey Wong, Shin-Wen Chen, Schu-Rern Chern, Yen-Ting Pan, Wen-Lin Chen, Wayseen Wang

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Chromosomal Aberrations in Turkish Infertile Couples with Reproductive Problems by Osman Demirhan, Nilgün Tanrıverdi, Dilara Süleymanova

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Rare Kidney Diseases New Translational Research Approach to Improve Diagnosis and Therapy

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A Niemann-Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report by Abdullah Al-Shamrani, Khalid Al-Shamrani, Ahmed Bin Mahfoudh, Ahmed Sarar Mohamed, Sarar Mohamed

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A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome by Rui Wang, Wei-Qian Wang, Xiao-Qin Li, Juan Zhao, Kun Yang, Yong Feng, Meng-Meng Guo, Min Liu, Xing Liu, Xi Wang, Yong-Yi Yuan, Xue Gao, Jin-Cao Xu

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The Future of Newborn Genomic Testing by John D. Lantos

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Community Genetics: a new discipline and its application in Brazil Genética Comunitária: uma nova disciplina e sua aplicação no Brasil by Antonio Sérgio Ramalho, Roberto Benedito de Paiva e Silva

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A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result by Dan Li, Yun Wang, Nan Zhao, Liang Chang, Ping Liu, Chan Tian, Jie Qiao

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Clinical manifestations of chromosomal anomalies and polymorphic variations in patients suffering from reproductive failure by Leena Rawal, Sumit Kumar, Shiba Ranjan Mishra, Vandana Lal, Saurabh Kumar Bhattacharya

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