المؤلفون: Dong, Weilai, Wong, Karen HY, Liu, Youbin, Levy-Sakin, Michal, Hung, Wei-Chien, Li, Mo, Li, Boyang, Jin, Sheng Chih, Choi, Jungmin, Lopez-Giraldez, Francesc, Vaka, Dedeepya, Poon, Annie, Chu, Catherine, Lao, Richard, Balamir, Melek, Movsesyan, Irina, Malloy, Mary J, Zhao, Hongyu, Kwok, Pui-Yan, Kane, John P, Lifton, Richard P, Pullinger, Clive R

المصدر: Journal of Lipid Research. 63(6)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Heart Disease, Biotechnology, Human Genome, Atherosclerosis, Cardiovascular, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Cholesterol, HDL, Genome-Wide Association Study, Heterozygote, Humans, Hypoalphalipoproteinemias, Exome Sequencing, dyslipidemia, genetics, HDL, LDL, lipoproteins, prebeta-1 HDL, reverse cholesterol transport, triglycerides, Biochemistry and Cell Biology, Medical Biochemistry and Metabolomics, Biochemistry & Molecular Biology, Biochemistry and cell biology, Medical biochemistry and metabolomics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4wf7f38fTest

المؤلفون: Wong, Karen HY, Levy‐Sakin, Michal, Ma, Walfred, Gonzaludo, Nina, Mak, Angel CY, Vaka, Dedeepya, Poon, Annie, Chu, Catherine, Lao, Richard, Balamir, Melek, Grenville, Zoe, Wong, Nicolas, Kane, John P, Kwok, Pui‐Yan, Malloy, Mary J, Pullinger, Clive R

المصدر: Molecular Genetics & Genomic Medicine. 7(12)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Atherosclerosis, Biotechnology, Cardiovascular, Human Genome, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Base Sequence, Child, Preschool, Cholesterol, LDL, Chromosome Mapping, Cohort Studies, Frameshift Mutation, Genetic Variation, Genome, Human, Heterozygote, Homozygote, Humans, Hyperlipoproteinemia Type II, Infant, Lipoproteins, LDL, Pedigree, Phenotype, Receptors, LDL, Sequence Analysis, DNA, Exome Sequencing, 10xG linked-reads whole genome sequencing, dyslipidemia, LDL, whole exome sequencing, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/52g9w46vTest

المؤلفون: Balamir, Melek¹, Eşkazan, Tuğçe¹, Önal, Uğur¹, Candan, Selçuk¹, Ekşi, Onur¹, Ceyran, Ayşe Bahar², Dobrucalı, Ahmet Merih¹ adobrucali@yahoo.com

المصدر: Cerrahpaşa Medical Journal. Apr2024, Vol. 48 Issue 1, p105-107. 3p.

مصطلحات موضوعية: *ESOPHAGUS diseases, *RARE diseases, *ETIOLOGY of diseases, *LITERATURE reviews, *MELANOMA, *ESOPHAGEAL cancer

المؤلفون: Kwok, Pui-Yan, Balamir, Melek, Kane, John P., Malloy, Mary J., Pullinger, Clive R., Wong, Karen H. Y., Levy-Sakin, Michal, Ma, Waifred, Gonzaludo, Nina, Mak, Angel C. Y., Vaka, Dedeem A., Poon, Annie, Chu, Catherine, Lao, Richard, Grenville, Zoe, Wong, Nicolas

المساهمون: University of California System ,, 268971

مصطلحات موضوعية: Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Yaşam Bilimleri (LIFE), GENETİK VE HAYAT

العلاقة: MOLECULAR GENETICS & GENOMIC MEDICINE; Wong K. H. Y. , Levy-Sakin M., Ma W., Gonzaludo N., Mak A. C. Y. , Vaka D. A. , Poon A., Chu C., Lao R., Balamir M., et al., "Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis", MOLECULAR GENETICS & GENOMIC MEDICINE, 2019; vv_1032021; av_c9e31e60-ad35-4532-b20d-83e2bea0c5bf; http://hdl.handle.net/20.500.12627/133751Test; https://doi.org/10.1002/mgg3.1007Test

الإتاحة: https://doi.org/20.500.12627/133751Test
https://doi.org/10.1002/mgg3.1007Test
https://hdl.handle.net/20.500.12627/133751Test