Search Results - "genetic testing"

New Insights in the Genetics and Genomics of Adrenocortical Tumors and Pheochromocytomas

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Breast Cancer-Therapeutic Challenges, Research Strategies and Novel Diagnostics

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Personalized and Precision Medicine 2022

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A Personalized Medicine Approach to the Diagnosis and Management of Autism Spectrum Disorder

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Community and Family-Focused Public Health and Sustainable Development

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The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing by Wen Zhang, Wen Zhang, Wen Zhang, Dong Li, Dong Li, Dong Li, Nan Pang, Nan Pang, Nan Pang, Li Jiang, Baomin Li, Fanghua Ye, Fang He, Fang He, Fang He, Shimeng Chen, Shimeng Chen, Shimeng Chen, Fangyun Liu, Fangyun Liu, Fangyun Liu, Jing Peng, Jing Peng, Jing Peng, Jinghua Yin, Fei Yin, Fei Yin, Fei Yin

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Case report of a child with nephronophthisis from South Africa by Rajendra Bhimma, Edgar Jembere, Sudesh Hariparshad

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Medical Genetics Ethics Case Collection: Discussion Materials for Medical Students in the Genomic Era by Shoumita Dasgupta

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Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital by Miriam E. Imafidon, Birgit Sikkema-Raddatz, Kristin M. Abbott, Martine T. Meems-Veldhuis, Morris A. Swertz, Morris A. Swertz, K. Joeri van der Velde, K. Joeri van der Velde, Gea Beunders, Dennis K. Bos, Nine V. A. M. Knoers, Wilhelmina S. Kerstjens-Frederikse, Cleo C. van Diemen

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Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update by Deepti Narasimhaiah, Megha S Uppin, Prajnya Ranganath

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Familial Melanoma: Diagnostic and Management Implications by Mariarita Rossi, Cristina Pellegrini, Ludovica Cardelli, Valeria Ciciarelli, Lucia Di Nardo, Maria Concetta Fargnoli

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Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability by Rowim AlMutiri, Maisa Malta, Michael I. Shevell, Myriam Srour

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Early onset, multiple, bilateral fibroadenomas of the breast: a case report by Cecilia J. Im, Ashlie Miller, Ronald Balassanian, Rita A. Mukhtar

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India's first child using PGT-M, PGT-A and HLA matching for helping a sibling having β-thalassemia major by Jwal M Banker, Parul Arora, Rajni Khajuria, Manish Banker

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Exploring Genetic Numeracy Skills in a Sample of U.S. University Students by Margo W. Bergman, Patricia Goodson, Heather Honoré Goltz, Heather Honoré Goltz

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Intracytoplasmic sperm injection versus conventional in vitro fertilization in unexplained infertility by Aya Iwamoto, M.S., M.D, Karen M. Summers, M.P.H, Amy Sparks, Ph.D, Abigail C. Mancuso, M.D

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Molar pregnancy after in vitro fertilization with euploid single embryo transfer by Beth Zhou, M.D, Helen Paige Anglin, M.D, Alexander M. Quaas, M.D., Ph.D

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Discordant immunohistochemistry in an unusual MLH1 gene variant in a case of Lynch syndrome by Prerana Nagabhushana, Snigdha Kumari, Minakshi Rohilla, Radhika Srinivasan, Aashima Arora, Pulkit Rastogi

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Self-efficacy and self-management strategies in acute intermittent porphyria by Marte H. Hammersland, Aasne K. Aarsand, Sverre Sandberg, Janice Andersen

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Variants of and the increasing complexity of testing for alpha-1 antitrypsin deficiency by Kimberly E. Foil

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