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Research Title Research Type Research Year
Mutational Screening of RET, HRAS, KRAS, NRAS, BRAF, AKT1, and CTNNB1 in Medullary Thyroid Carcinoma
Mutational Screening of RET, HRAS, KRAS, NRAS, BRAF, AKT1, and CTNNB1 in Medullary Thyroid Carcinoma

International Institute of Anticancer Research
Article In Journal 1433

Research Title Research Type Research Year
A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family
A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family

Lippincott, Williams & Wilkins
Article In Journal 1433

Research Title Research Type Research Year
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection

Human Genome Variation Society
Article In Journal 1432

Research Title Research Type Research Year
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010

Human Genome Variation Society
Article In Journal 1432

Research Title Research Type Research Year
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Nature Publishing Group
Article In Journal 1432

Research Title Research Type Research Year
Initiating a Human Variome Project Country Node
Initiating a Human Variome Project Country Node

Human Genome Variation Society
Article In Journal 1432

Research Title Research Type Research Year
Attitudes towards mandatory national premarital screening for hereditary hemolytic disorders
Attitudes towards mandatory national premarital screening for hereditary hemolytic disorders

Article In Journal 1431

Research Title Research Type Research Year
Planning the Human Variome Project: The Spain Report
Planning the Human Variome Project: The Spain Report

Human Genome Variation Society
Article In Journal 1430

Research Title Research Type Research Year
طفرات فقد الوظائف في جين ا ت ب6ف0ا2 يضعف المرور الحويصلي وترسب الايلاستين وبقاء الخلايا
LOSS-OF-FUNCTION MUTATIONS IN ATP6V0A2 IMPAIR VESICULAR TRAFFICKING, ELASTIN DEPOSITION, AND CELL SURVIVAL

Oxford Journals
Article In Journal 1430


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