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Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders

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Nội dung chi tiết: Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders

Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders

CAO HA MYIDENTIFICATION OF PATHOGENIC VARIAN TSIN IGHMBP2 GENE AND APPLICATION ON PRENATAL DLAGNOSIS OFRARE NEUROMUSCULAR DISORDERSGraduation Thesis M

Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders Major: General Practitioner Major code: 52720101Academic SupervisorAssociate Professor TRAN VAN KHANH. M.D. PhD.ACKNOWLEDGEMENT1 first joined scientif

ic research four years ago as an enthusiastic student yearning for new knowledge. That full of difficulties but memorable experiences have changed me Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders

and become part ■ «c iMCKotcv h I was lucks' enough to meet, learn, andreceive valuable guidance from many teachers and friends during niv journey. Th

Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders

eir support would be of great importance for me to complete my graduation thesis confidently.Firstly I would like to express my deepest gratitude to A

CAO HA MYIDENTIFICATION OF PATHOGENIC VARIAN TSIN IGHMBP2 GENE AND APPLICATION ON PRENATAL DLAGNOSIS OFRARE NEUROMUSCULAR DISORDERSGraduation Thesis M

Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders l University, who provided me great support and leadership which allowed me to conduct the research and finish this diesis successfully I am thankful

to her for presenting such excellent advice and guidance despite having a tight schedule.I heartily thank Professor Ta Thanh Van, M.D, Ph D. Chairman Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders

of University Council of Hanoi Medical University and Director of die Center for Gen-Protein Research. Professor The-Hung Bui MD. PhD Centre for Molec

Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders

ular Medicine. Clinical Genetics Unit in Karolinska Universitat, and Assc. Professor Tran Huy Thinh. M.D., Ph D Deputy Head of Department of Biochemis

CAO HA MYIDENTIFICATION OF PATHOGENIC VARIAN TSIN IGHMBP2 GENE AND APPLICATION ON PRENATAL DLAGNOSIS OFRARE NEUROMUSCULAR DISORDERSGraduation Thesis M

Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders and inspired me to be a good doctor and researcher with a thorough understanding of medical ethics.ffiửã|iâ|tiỀỄ^Ỉ$ỀỀteỊÌgta(}&fi!ifctiặlằpgtt(bqHgsB

pDt]gẾtiẺfllỊjpỌlilpậíhindiỉ)tEof■1M Qi Ufi< VHIMy sincere thank also goes to Ms. Le Thi Phuong and the Centre tor Gene-Protein Research staff who car Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders

efully instructed and supervised me to conduct several molecular techniques.The last words of thanks. 1 would like to send to my parents, who are the

Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders

idols in me and have always laid concrete encouragement to me in my life.Hanoi. May 2021Cao Ha Myr-u-tMC|t«fttVHlLIST OF ABBREVIATIONI hereby certify

CAO HA MYIDENTIFICATION OF PATHOGENIC VARIAN TSIN IGHMBP2 GENE AND APPLICATION ON PRENATAL DLAGNOSIS OFRARE NEUROMUSCULAR DISORDERSGraduation Thesis M

Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders wledge and belief, it does not contain any material previously published or written by other persons except where reference has been made in the textH

anoi. May 2021CAO HA MY AchR AFPAcetylcholine receptor Alpha-fetoproteinCNSCentral nervous systemCMT2S CVSCharcot-Marie-Tooth disease, type 2S Chorion Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders

ic villus samplingDIADimeric Inhibin-ADNADeoxyribonucleic AcidDSMA hCGDistal Spinal Muscular Atrophy human Chorionic GonadotropinHMNHereditary Motor N

Identification of Pathogenic variants in IGHMBP2 gene and Application on Prenatal diagnosis of Rare Neuromuscular Disorders

europathyHMSN IGHMBP2Hereditary motor and sensor}' neuropathies Immunoglobulin Mu DNA Binding Protein 2IVFin vứro FertilizationNMDNeuromuscular disord

CAO HA MYIDENTIFICATION OF PATHOGENIC VARIAN TSIN IGHMBP2 GENE AND APPLICATION ON PRENATAL DLAGNOSIS OFRARE NEUROMUSCULAR DISORDERSGraduation Thesis M

CAO HA MYIDENTIFICATION OF PATHOGENIC VARIAN TSIN IGHMBP2 GENE AND APPLICATION ON PRENATAL DLAGNOSIS OFRARE NEUROMUSCULAR DISORDERSGraduation Thesis M

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