Search Results - "Medical genetics"

Governing, Protecting, and Regulating the Future of Genome Editing The Significance of ELSPI Perspectives

Subjects: “…Medical genetics bicssc…”
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Genetic Risk for Recessively Inherited Disease (Duchenne Muscular Dystrophy and Congenital Hearing Loss) by Vicki M. Park, William F. Brescia, Satoru K. Nishimoto, Jewell C. Ward, Eniko K. Pivnick, Gary Nace, Russell W. Chesney

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Die gesondheidsvoorligtingsfunksie van die verpleegkundige met betrekking tot mensgenetika by Frieda Paton

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Self-Directed Active Learning Modules for Pedigree Analysis and Genetic Risk Assessment by Julie Kerry, Elizabeth Chisholm

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Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome) by Poswar FDO, Henriques Nehm J, Kubaski F, Poletto E, Giugliani R

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Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations by Dehghan Manshadi M, Kamalidehghan B, Aryani O, Khalili E, Dadgar S, Tondar M, Ahmadipour F, Yong Meng G, Houshmand M

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A proposal for clinical genetics (genetics in medicine) education for medical technologists and other health professionals in Japan by Hidestugu eKohzaki

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OnkoRiskNET: a multicenter, interdisciplinary, telemedicine-based model to improve care for patients with a genetic tumor risk syndrome by Johanna Tecklenburg, Beate Vajen, Susanne Morlot, Petra Anders, Paula Memenga, Elena Link, Eva Baumann, Sarah Wölffling, Evelin Schröck, Anke Katharina Bergmann, Brigitte Schlegelberger

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Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report by Wei Guo, Yanguo Zhao, Shuwei Li, Jingqun Wang, Xiang Liu

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Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report by Pedro Alí Díaz-Véliz Jiménez, María Antonia Ocaña Gil, Leydi María Sosa Águila, Belkis Vidal Hernández

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Genetic-molecular characterization in the diagnosis of primary immunodeficiencies by Gesmar Rodrigues Silva Segundo

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First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene by Alain Chebly, Sandra Corbani, Joelle Abou Ghoch, Cybel Mehawej, André Megarbane, Eliane Chouery

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Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report by Qing Liu, Mengling Liu, Tianshu Liu, Yiyi Yu

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Introductory TBL Exercise on Genetic Risk by William F. Brescia, Vicki M. Park, Jewell C. Ward

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A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report by Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani

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Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants by Zhijie Gao, Hua Xie, Qian Jiang, Nan Wu, Xiaoli Chen, Qian Chen

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A comprehensive overview on osteoporosis and its risk factors by Pouresmaeili F, Kamalidehghan B, Kamarehei M, Goh YM

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A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family by Akram Sarmadi, Samane Nasrniya, Maryam Soleimani Farsani, Sina Narrei, Zahra Nouri, Mahsa Sepehrnejad, Mohammad Hussein Nilforoush, Hamidreza Abtahi, Mohammad Amin Tabatabaiefar

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Experience of distance teaching of pediatrics to the fourth year students in medical higher education institutions of Ukraine in the conditions of the COVID-19 pandemic by O.E. Abaturov, O.O. Agafonova

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Genetic studies of the Roma (Gypsies): a review by Gresham David, Kalaydjieva Luba, Calafell Francesc

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