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- [21] Variant Analysis in LDLR Gene Uncovers Genetic Basis of Familial Hypercholesterolemia: A Case ReportJOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2024, 18 (05) : GD1 - GD4Deshpande, Tanmay Ulhas论文数: 0 引用数: 0 h-index: 0机构: Sir HN Reliance Fdn Hosp & Res Ctr, Dept Genom, Mumbai, India Sir HN Reliance Fdn Hosp & Res Ctr, Dept Genom, Mumbai, IndiaChheda, Pratiksha Rakesh论文数: 0 引用数: 0 h-index: 0机构: Sir HN Reliance Fdn Hosp & Res Ctr, Dept Genom, Mumbai, India Sir HN Reliance Fdn Hosp & Res Ctr, Dept Genom, Mumbai, IndiaDama, Tavisha Jayant论文数: 0 引用数: 0 h-index: 0机构: Sir HN Reliance Fdn Hosp & Res Ctr, Dept Genom, Mumbai, India Sir HN Reliance Fdn Hosp & Res Ctr, Dept Genom, Mumbai, IndiaShivaprakash, Krishnanaik论文数: 0 引用数: 0 h-index: 0机构: Sir HN Reliance Fdn Hosp & Res Ctr, Dept Paediat Cardiac Sci, Mumbai, India Sir HN Reliance Fdn Hosp & Res Ctr, Dept Genom, Mumbai, IndiaBhamre, Bipeenchandra论文数: 0 引用数: 0 h-index: 0机构: Sir HN Reliance Fdn Hosp & Res Ctr, Dept Cardiac Surg, Mumbai, India Sir HN Reliance Fdn Hosp & Res Ctr, Dept Genom, Mumbai, India
- [22] Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemiaATHEROSCLEROSIS, 2018, 277 : 425 - 433Alnouri, Fahad论文数: 0 引用数: 0 h-index: 0机构: Prince Sultan Cardiac Ctr, Dept Adult Cardiol, Cardiovasc Prevent Unit, POB 7897,In Hosp Box X 1003, Riyadh 11159, Saudi Arabia Prince Sultan Cardiac Ctr, Dept Adult Cardiol, Cardiovasc Prevent Unit, POB 7897,In Hosp Box X 1003, Riyadh 11159, Saudi ArabiaAthar, Mohammad论文数: 0 引用数: 0 h-index: 0机构: Umm Al Qura Univ, Dept Med Genet, Fac Med, Al Abedia Campus,POB 715, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Sci & Technol Unit, Mecca, Saudi Arabia Prince Sultan Cardiac Ctr, Dept Adult Cardiol, Cardiovasc Prevent Unit, POB 7897,In Hosp Box X 1003, Riyadh 11159, Saudi ArabiaAl-Allaf, Faisal A.论文数: 0 引用数: 0 h-index: 0机构: Umm Al Qura Univ, Dept Med Genet, Fac Med, Al Abedia Campus,POB 715, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Sci & Technol Unit, Mecca, Saudi Arabia King Abdullah Med City, Dept Lab, Mol Diagnost Unit, Mecca, Saudi Arabia King Abdullah Med City, Blood Bank, Mecca, Saudi Arabia Prince Sultan Cardiac Ctr, Dept Adult Cardiol, Cardiovasc Prevent Unit, POB 7897,In Hosp Box X 1003, Riyadh 11159, Saudi ArabiaAbduljaleel, Zainularifeen论文数: 0 引用数: 0 h-index: 0机构: Umm Al Qura Univ, Dept Med Genet, Fac Med, Al Abedia Campus,POB 715, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Sci & Technol Unit, Mecca, Saudi Arabia Prince Sultan Cardiac Ctr, Dept Adult Cardiol, Cardiovasc Prevent Unit, POB 7897,In Hosp Box X 1003, Riyadh 11159, Saudi ArabiaTaher, Mohiuddin M.论文数: 0 引用数: 0 h-index: 0机构: Umm Al Qura Univ, Dept Med Genet, Fac Med, Al Abedia Campus,POB 715, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Sci & Technol Unit, Mecca, Saudi Arabia Prince Sultan Cardiac Ctr, Dept Adult Cardiol, Cardiovasc Prevent Unit, POB 7897,In Hosp Box X 1003, Riyadh 11159, Saudi ArabiaBouazzaoui, Abdellatif论文数: 0 引用数: 0 h-index: 0机构: Umm Al Qura Univ, Dept Med Genet, Fac Med, Al Abedia Campus,POB 715, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Sci & Technol Unit, Mecca, Saudi Arabia Prince Sultan Cardiac Ctr, Dept Adult Cardiol, Cardiovasc Prevent Unit, POB 7897,In Hosp Box X 1003, Riyadh 11159, Saudi ArabiaAl Ammari, Dalal论文数: 0 引用数: 0 h-index: 0机构: Prince Sultan Mil Med City, Dept Dermatol, Riyadh, Saudi Arabia Prince Sultan Cardiac Ctr, Dept Adult Cardiol, Cardiovasc Prevent Unit, POB 7897,In Hosp Box X 1003, Riyadh 11159, Saudi ArabiaKarrar, Hussam论文数: 0 引用数: 0 h-index: 0机构: Prince Sultan Cardiac Ctr, Dept Adult Cardiol, Cardiovasc Prevent Unit, POB 7897,In Hosp Box X 1003, Riyadh 11159, Saudi Arabia Prince Sultan Cardiac Ctr, Dept Adult Cardiol, Cardiovasc Prevent Unit, POB 7897,In Hosp Box X 1003, Riyadh 11159, Saudi ArabiaAlbabtain, Monirah论文数: 0 引用数: 0 h-index: 0机构: Prince Sultan Cardiac Ctr, Dept Adult Cardiol, Cardiovasc Prevent Unit, POB 7897,In Hosp Box X 1003, Riyadh 11159, Saudi Arabia Prince Sultan Cardiac Ctr, Dept Adult Cardiol, Cardiovasc Prevent Unit, POB 7897,In Hosp Box X 1003, Riyadh 11159, Saudi Arabia
- [23] A novel pathogenic variant of the LDLR gene in the Asian population and its clinical correlation with familial hypercholesterolemiaMOLECULAR BIOLOGY REPORTS, 2012, 39 (07) : 7831 - 7838Chahil, J. K.论文数: 0 引用数: 0 h-index: 0机构: INFOVALLEY Grp Co, Unit 1 1, Mines Resort City 43300, Selangor, Malaysia INFOVALLEY Grp Co, Unit 1 1, Mines Resort City 43300, Selangor, MalaysiaLye, S. H.论文数: 0 引用数: 0 h-index: 0机构: INFOVALLEY Grp Co, Unit 1 1, Mines Resort City 43300, Selangor, Malaysia INFOVALLEY Grp Co, Unit 1 1, Mines Resort City 43300, Selangor, MalaysiaBagali, P. G.论文数: 0 引用数: 0 h-index: 0机构: INFOVALLEY Grp Co, Unit 1 1, Mines Resort City 43300, Selangor, Malaysia INFOVALLEY Grp Co, Unit 1 1, Mines Resort City 43300, Selangor, MalaysiaAlex, L.论文数: 0 引用数: 0 h-index: 0机构: INFOVALLEY Grp Co, Unit 1 1, Mines Resort City 43300, Selangor, Malaysia INFOVALLEY Grp Co, Unit 1 1, Mines Resort City 43300, Selangor, Malaysia
- [24] A novel pathogenic variant of the LDLR gene in the Asian population and its clinical correlation with familial hypercholesterolemiaMolecular Biology Reports, 2012, 39 : 7831 - 7838J. K. Chahil论文数: 0 引用数: 0 h-index: 0机构: INFOVALLEY Group of Companies,S. H. Lye论文数: 0 引用数: 0 h-index: 0机构: INFOVALLEY Group of Companies,P. G. Bagali论文数: 0 引用数: 0 h-index: 0机构: INFOVALLEY Group of Companies,L. Alex论文数: 0 引用数: 0 h-index: 0机构: INFOVALLEY Group of Companies,
- [25] The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classificationGENETICS IN MEDICINE, 2022, 24 (02) : 293 - 306Chora, Joana R.论文数: 0 引用数: 0 h-index: 0机构: Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, Portugal Univ Lisbon, Fac Sci, Dept Chem & Biochem, BioISI BioSyst & Integrat Sci Inst, Lisbon, Portugal Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalIacocca, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA Hosp Sick Children, Dept Paediat Lab Med, Toronto, ON, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalTichy, Lukas论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Brno, Ctr Mol Biol & Gene Therapy, Brno, Czech Republic Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, Portugal论文数: 引用数: h-index:机构:Kurtz, C. Lisa论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC 27515 USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalZimmermann, Heather论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalLeon, Annette论文数: 0 引用数: 0 h-index: 0机构: Color Hlth Inc, Burlingame, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalWilliams, Maggie论文数: 0 引用数: 0 h-index: 0机构: North Bristol NHS Trust, Bristol Genet Lab, Bristol, Avon, England Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalHumphries, Steve E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Ctr Cardiovasc Genet, Inst Cardiovasc Sci, London, England Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalHooper, Amanda J.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Royal Perth Hosp, PathWest Lab Med WA, Dept Clin Biochem, Perth, WA, Australia Univ Western Australia, Fiona Stanley Hosp Network, Perth, WA, Australia Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalTrinder, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Fac Med, Dept Med, Vancouver, BC, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalBrunham, Liam R.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Fac Med, Dept Med, Vancouver, BC, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalPereira, Alexandre Costa论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Inst Hearth InCor, Lab Genet & Mol Cardiol, Sao Paulo, Brazil Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalJannes, Cinthia E.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Inst Hearth InCor, Lab Genet & Mol Cardiol, Sao Paulo, Brazil Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalChen, Margaret论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalChonis, Jessica论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalWang, Jian论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Robarts Res Inst, Schulich Sch Med & Dent, London, ON, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalKim, Serra论文数: 0 引用数: 0 h-index: 0机构: Color Hlth Inc, Burlingame, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalJohnston, Tami论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalSoucek, Premysl论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Surg & Transplantat, Brno, Czech Republic Masaryk Univ, Fac Med, Brno, Czech Republic Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalKramarek, Michal论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Surg & Transplantat, Brno, Czech Republic Masaryk Univ, Fac Med, Brno, Czech Republic Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalLeigh, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Genom England, London, England Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalCarrie, Alain论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Obes & Dyslipidemia Genet Unit, Mol & Chromosomal Genet Ctr, Univ Hosp Pitie Salpetriere Charles Foix, Paris, France Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalSijbrands, Eric J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Acad Med Ctr, Rotterdam, Netherlands Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalHegele, Robert A.论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Robarts Res Inst, Schulich Sch Med & Dent, London, ON, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalFreiberger, Tomas论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Surg & Transplantat, Brno, Czech Republic Masaryk Univ, Fac Med, Brno, Czech Republic Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalKnowles, Joshua W.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Prevent Res Ctr, Div Cardiovasc Med,Stanford Cardiovasc Inst, Stanford, CA 94305 USA Stanford Univ, Sch Med, Diabet Res Ctr, Stanford, CA 94305 USA FH Fdn, Pasadena, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalBourbon, Mafalda论文数: 0 引用数: 0 h-index: 0机构: Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, Portugal Univ Lisbon, Fac Sci, Dept Chem & Biochem, BioISI BioSyst & Integrat Sci Inst, Lisbon, Portugal Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, Portugal
- [26] Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic InsightsLIFE-BASEL, 2023, 13 (07):Athar, Mohammad论文数: 0 引用数: 0 h-index: 0机构: Umm Al Qura Univ, Fac Med, Dept Med Genet, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Sci & Technol Unit, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Fac Med, Dept Med Genet, Mecca 21955, Saudi ArabiaToonsi, Mawaddah论文数: 0 引用数: 0 h-index: 0机构: Umm Al Qura Univ, Dept Pediat, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Fac Med, Dept Med Genet, Mecca 21955, Saudi ArabiaAbduljaleel, Zainularifeen论文数: 0 引用数: 0 h-index: 0机构: Umm Al Qura Univ, Fac Med, Dept Med Genet, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Sci & Technol Unit, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Fac Med, Dept Med Genet, Mecca 21955, Saudi ArabiaBouazzaoui, Abdellatif论文数: 0 引用数: 0 h-index: 0机构: Umm Al Qura Univ, Fac Med, Dept Med Genet, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Sci & Technol Unit, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Fac Med, Dept Med Genet, Mecca 21955, Saudi ArabiaBogari, Neda M.论文数: 0 引用数: 0 h-index: 0机构: Umm Al Qura Univ, Fac Med, Dept Med Genet, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Fac Med, Dept Med Genet, Mecca 21955, Saudi ArabiaDannoun, Anas论文数: 0 引用数: 0 h-index: 0机构: Umm Al Qura Univ, Fac Med, Dept Med Genet, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Fac Med, Dept Med Genet, Mecca 21955, Saudi ArabiaAl-Allaf, Faisal A.论文数: 0 引用数: 0 h-index: 0机构: Umm Al Qura Univ, Fac Med, Dept Med Genet, Mecca 21955, Saudi Arabia Umm Al Qura Univ, Fac Med, Dept Med Genet, Mecca 21955, Saudi Arabia
- [27] RESOLVING CONFLICTING LDLR VARIANTS IN CLINVAR - PROGRESS OF THE CLINGEN FAMILIAL HYPERCHOLESTEROLEMIA VARIANT CURATION EXPERT PANELATHEROSCLEROSIS, 2023, 379论文数: 引用数: h-index:机构:Iacocca, M.论文数: 0 引用数: 0 h-index: 0机构: Deep Genom, Toronto, ON, Canada Natl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Lisbon, PortugalElnagheeb, M.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC USA Natl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Lisbon, PortugalKullo, I.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Cardiovasc Med, Rochester, MN USA Natl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Lisbon, PortugalBourbon, M.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Lisbon, Portugal Univ Lisbon, Bioisi Biosyst & Integrat Sci Inst, Fac Sci, Lisbon, Portugal Natl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Lisbon, Portugal
- [28] Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR)ATHEROSCLEROSIS, 2020, 311 : 37 - 43Rodriguez-Novoa, Sonia论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPAZ, Dept Genet, Genet Metab Dis Lab, Madrid, Spain Hosp Univ La Paz, IdiPAZ, Dept Genet, Genet Metab Dis Lab, Madrid, SpainRodriguez-Jimenez, Carmen论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPAZ, Dept Genet, Genet Metab Dis Lab, Madrid, Spain Hosp Univ La Paz, IdiPAZ, Dept Genet, Genet Metab Dis Lab, Madrid, SpainAlonso, Concepcion论文数: 0 引用数: 0 h-index: 0机构: Hosp La Princesa, Dept Genet, Madrid, Spain Hosp Univ La Paz, IdiPAZ, Dept Genet, Genet Metab Dis Lab, Madrid, SpainRodriguez-Laguna, Lara论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPAZ, Inst Med & Mol Genet INGEMM, Vasc Malformat Sect, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, U753, Madrid, Spain Hosp Univ La Paz, IdiPAZ, Dept Genet, Genet Metab Dis Lab, Madrid, SpainGordo, Gema论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPAZ, Inst Med & Mol Genet INGEMM, Vasc Malformat Sect, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, U753, Madrid, Spain Hosp Univ La Paz, IdiPAZ, Dept Genet, Genet Metab Dis Lab, Madrid, SpainMartinez-Glez, Victor论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPAZ, Inst Med & Mol Genet INGEMM, Vasc Malformat Sect, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, U753, Madrid, Spain Hosp Univ La Paz, IdiPAZ, Dept Genet, Genet Metab Dis Lab, Madrid, SpainGarcia Polo, Iluminada论文数: 0 引用数: 0 h-index: 0机构: Hosp La Princesa, Dept Internal Med, Madrid, Spain Hosp Univ La Paz, IdiPAZ, Dept Genet, Genet Metab Dis Lab, Madrid, Spain
- [29] Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in TaiwanATHEROSCLEROSIS, 2018, 277 : 440 - 447Hsiung, Yun-Chieh论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ, Coll Med, Grad Inst Med Genom & Prote, 2 Xuzhou Rd, Taipei 10055, Taiwan Natl Taiwan Univ, Coll Med, Grad Inst Med Genom & Prote, 2 Xuzhou Rd, Taipei 10055, TaiwanLin, Po-Chih论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Internal Med, 7 Chung Shan South Rd, Taipei 10002, Taiwan Natl Taiwan Univ Hosp, Cardiovasc Ctr, Taipei, Taiwan Natl Taiwan Univ, Coll Med, Grad Inst Med Genom & Prote, 2 Xuzhou Rd, Taipei 10055, TaiwanChen, Chih-Shan论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ, Coll Med, Grad Inst Med Genom & Prote, 2 Xuzhou Rd, Taipei 10055, Taiwan Natl Taiwan Univ, Coll Med, Grad Inst Med Genom & Prote, 2 Xuzhou Rd, Taipei 10055, TaiwanTung, Yi-Ching论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Pediat, Taipei, Taiwan Natl Taiwan Univ, Coll Med, Taipei, Taiwan Natl Taiwan Univ, Grad Inst Clin Med, Coll Med, Taipei, Taiwan Natl Taiwan Univ, Coll Med, Grad Inst Med Genom & Prote, 2 Xuzhou Rd, Taipei 10055, TaiwanYang, Wei-Shiung论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ, Coll Med, Grad Inst Med Genom & Prote, 2 Xuzhou Rd, Taipei 10055, Taiwan Natl Taiwan Univ, Grad Inst Clin Med, Coll Med, Taipei, Taiwan Natl Taiwan Univ Hosp, Div Endocrinol & Metab, Dept Internal Med, Taipei, Taiwan Natl Taiwan Univ, Res Ctr Dev Biol & Regenerat Med, Taipei, Taiwan Natl Taiwan Univ, Dept Med, Coll Med, Taipei, Taiwan Natl Taiwan Univ, Coll Med, Grad Inst Med Genom & Prote, 2 Xuzhou Rd, Taipei 10055, TaiwanChen, Pei-Lung论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ, Coll Med, Grad Inst Med Genom & Prote, 2 Xuzhou Rd, Taipei 10055, Taiwan Natl Taiwan Univ, Grad Inst Clin Med, Coll Med, Taipei, Taiwan Natl Taiwan Univ Hosp, Div Endocrinol & Metab, Dept Internal Med, Taipei, Taiwan Natl Taiwan Univ, Res Ctr Dev Biol & Regenerat Med, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Natl Taiwan Univ, Coll Med, Grad Inst Med Genom & Prote, 2 Xuzhou Rd, Taipei 10055, TaiwanSu, Ta-Chen论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Internal Med, 7 Chung Shan South Rd, Taipei 10002, Taiwan Natl Taiwan Univ Hosp, Cardiovasc Ctr, Taipei, Taiwan Natl Taiwan Univ, Coll Publ Hlth, Inst Occupat Med & Ind Hyg, Taipei, Taiwan Natl Taiwan Univ, Coll Med, Grad Inst Med Genom & Prote, 2 Xuzhou Rd, Taipei 10055, Taiwan
- [30] Evidence for a third genetic locus causing familial hypercholesterolemia: a non-LDLR, non-APOB kindredJOURNAL OF LIPID RESEARCH, 1999, 40 (06) : 1113 - 1122Haddad, L论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Internal Med, Salt Lake City, UT 84108 USADay, INM论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Internal Med, Salt Lake City, UT 84108 USAHunt, S论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Internal Med, Salt Lake City, UT 84108 USAWilliams, RR论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Internal Med, Salt Lake City, UT 84108 USAHumphries, SE论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Internal Med, Salt Lake City, UT 84108 USAHopkins, PN论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Internal Med, Salt Lake City, UT 84108 USA