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- [21] Teaching NeuroImages: Huge carotid artery aneurysm in TSC2/PKD1 contiguous gene syndromeNEUROLOGY, 2017, 89 (08) : E93 - E94Wang, Bow论文数: 0 引用数: 0 h-index: 0机构: Natl Cheng Kung Univ, Coll Med, Natl Cheng Kung Univ Hosp, Dept Diagnost Radiol, Tainan, Taiwan Natl Cheng Kung Univ, Coll Med, Natl Cheng Kung Univ Hosp, Dept Diagnost Radiol, Tainan, TaiwanTu, Yi-Fang论文数: 0 引用数: 0 h-index: 0机构: Natl Cheng Kung Univ, Coll Med, Natl Cheng Kung Univ Hosp, Dept Pediat, Tainan, Taiwan Natl Cheng Kung Univ, Coll Med, Natl Cheng Kung Univ Hosp, Dept Diagnost Radiol, Tainan, Taiwan论文数: 引用数: h-index:机构:
- [22] POLYCYSTIC KIDNEY DISEASE (PKD) OF EARLY CHILDHOOD DUE TO PKD1/TSC2 CONTIGUOUS GENE DELETION SYNDROME, PKD WITH TUBEROUS SCLEROSIS COMPLEXPEDIATRIC NEPHROLOGY, 2018, 33 (10) : 1915 - 1916Bulbul, Mustafa Cem论文数: 0 引用数: 0 h-index: 0机构: Koc Univ, Dept Pediat, Sch Med, Istanbul, Turkey Koc Univ, Dept Pediat, Sch Med, Istanbul, TurkeyTasdemir, Mehmet论文数: 0 引用数: 0 h-index: 0机构: Koc Univ, Div Pediat Nephrol, Dept Pediat, Sch Med, Istanbul, Turkey Koc Univ, Dept Pediat, Sch Med, Istanbul, TurkeyEraslan, Serpil论文数: 0 引用数: 0 h-index: 0机构: Koc Univ, Dept Med Genet, Sch Med, Istanbul, Turkey Koc Univ, Dept Pediat, Sch Med, Istanbul, TurkeyOcak, Seda论文数: 0 引用数: 0 h-index: 0机构: Koc Univ, Dept Pediat, Sch Med, Istanbul, Turkey Koc Univ, Dept Pediat, Sch Med, Istanbul, TurkeyKayserili, Hulya论文数: 0 引用数: 0 h-index: 0机构: Koc Univ, Dept Med Genet, Sch Med, Istanbul, Turkey Koc Univ, Dept Pediat, Sch Med, Istanbul, TurkeyBilge, Ilmay论文数: 0 引用数: 0 h-index: 0机构: Koc Univ, Div Pediat Nephrol, Dept Pediat, Sch Med, Istanbul, Turkey Koc Univ, Dept Pediat, Sch Med, Istanbul, Turkey
- [23] Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndromeCLINICAL NEPHROLOGY, 2022, 97 (06) : 328 - 338Shang, Shunlai论文数: 0 引用数: 0 h-index: 0机构: Nankai Univ, Sch Med, Tianjin, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Natl Clin Res Ctr Kidney Dis, Chinese PLA Inst Nephrol, Dept Nephrol,Med Sch Chinese PLA,State Key Lab Ki, Beijing, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaMei, Yan论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Natl Clin Res Ctr Kidney Dis, Chinese PLA Inst Nephrol, Dept Nephrol,Med Sch Chinese PLA,State Key Lab Ki, Beijing, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaWang, Tao论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Natl Clin Res Ctr Kidney Dis, Chinese PLA Inst Nephrol, Dept Nephrol,Med Sch Chinese PLA,State Key Lab Ki, Beijing, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaZheng, Xinyi论文数: 0 引用数: 0 h-index: 0机构: Nankai Univ, Sch Med, Tianjin, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Natl Clin Res Ctr Kidney Dis, Chinese PLA Inst Nephrol, Dept Nephrol,Med Sch Chinese PLA,State Key Lab Ki, Beijing, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaChen, Keng论文数: 0 引用数: 0 h-index: 0机构: Guangdong Pharmaceut Univ, Clin Med Sch, Guangzhou, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaXiong, Shishi论文数: 0 引用数: 0 h-index: 0机构: 494622 Troop,566, Jinjiang City, Fujian, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaDong, Yu论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Natl Clin Res Ctr Kidney Dis, Chinese PLA Inst Nephrol, Dept Nephrol,Med Sch Chinese PLA,State Key Lab Ki, Beijing, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaChang, Yuanyuan论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Natl Clin Res Ctr Kidney Dis, Chinese PLA Inst Nephrol, Dept Nephrol,Med Sch Chinese PLA,State Key Lab Ki, Beijing, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaWu, Xiaoyuan论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Tiantan Hosp, Dept Nephrol, Beijing, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaKong, Xiangdong论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 1, Genet & Prenatal Diagnost Ctr, Zhengzhou, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaTan, Mei论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Women & Childrens Med Ctr, Guangzhou, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaWu, Li论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Cent Hosp, Zhengzhou, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaZhang, Yingjie论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Natl Clin Res Ctr Kidney Dis, Chinese PLA Inst Nephrol, Dept Nephrol,Med Sch Chinese PLA,State Key Lab Ki, Beijing, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaXiao, Yunming论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Natl Clin Res Ctr Kidney Dis, Chinese PLA Inst Nephrol, Dept Nephrol,Med Sch Chinese PLA,State Key Lab Ki, Beijing, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaXie, Yuansheng论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Natl Clin Res Ctr Kidney Dis, Chinese PLA Inst Nephrol, Dept Nephrol,Med Sch Chinese PLA,State Key Lab Ki, Beijing, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaCai, Guangyan论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Natl Clin Res Ctr Kidney Dis, Chinese PLA Inst Nephrol, Dept Nephrol,Med Sch Chinese PLA,State Key Lab Ki, Beijing, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaChen, Xiangmei论文数: 0 引用数: 0 h-index: 0机构: Nankai Univ, Sch Med, Tianjin, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Natl Clin Res Ctr Kidney Dis, Chinese PLA Inst Nephrol, Dept Nephrol,Med Sch Chinese PLA,State Key Lab Ki, Beijing, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R ChinaLi, Qinggang论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Natl Clin Res Ctr Kidney Dis, Chinese PLA Inst Nephrol, Dept Nephrol,Med Sch Chinese PLA,State Key Lab Ki, Beijing, Peoples R China Nankai Univ, Sch Med, Tianjin, Peoples R China
- [24] The prospect of novel orphan therapeutic protocol for TSC2/PKD1 contiguous gene syndrome: a case reportBMC NEPHROLOGY, 2025, 26 (01)Agavriloaei, Bogdan D.论文数: 0 引用数: 0 h-index: 0机构: Grigore T Popa Univ Med & Pharm Iasi, Iasi 700115, Romania Dr CI Parhon Univ Hosp, Iasi 700503, Romania Grigore T Popa Univ Med & Pharm Iasi, Iasi 700115, RomaniaCostache, Radu C.论文数: 0 引用数: 0 h-index: 0机构: Grigore T Popa Univ Med & Pharm Iasi, Iasi 700115, Romania Dr CI Parhon Univ Hosp, Iasi 700503, Romania Grigore T Popa Univ Med & Pharm Iasi, Iasi 700115, RomaniaBabici, Ramona G.论文数: 0 引用数: 0 h-index: 0机构: Grigore T Popa Univ Med & Pharm Iasi, Iasi 700115, Romania Dr CI Parhon Univ Hosp, Iasi 700503, Romania Grigore T Popa Univ Med & Pharm Iasi, Iasi 700115, RomaniaRacovita, Stela论文数: 0 引用数: 0 h-index: 0机构: Nicolae Testemitanu State Univ Med & Pharm, MD-2004 Kishinev, Moldova Nicolae Testemitanu State Univ Med & Pharm, Genet Lab Ctr Personalized Med, MD-2004 Kishinev, Moldova Grigore T Popa Univ Med & Pharm Iasi, Iasi 700115, RomaniaDodi, Gianina论文数: 0 引用数: 0 h-index: 0机构: Grigore T Popa Univ Med & Pharm Iasi, Iasi 700115, Romania Grigore T Popa Univ Med & Pharm Iasi, Iasi 700115, RomaniaCovic, Adrian C.论文数: 0 引用数: 0 h-index: 0机构: Grigore T Popa Univ Med & Pharm Iasi, Iasi 700115, Romania Dr CI Parhon Univ Hosp, Iasi 700503, Romania Grigore T Popa Univ Med & Pharm Iasi, Iasi 700115, RomaniaMititiuc, Irina L.论文数: 0 引用数: 0 h-index: 0机构: Grigore T Popa Univ Med & Pharm Iasi, Iasi 700115, Romania Dr CI Parhon Univ Hosp, Iasi 700503, Romania Grigore T Popa Univ Med & Pharm Iasi, Iasi 700115, Romania
- [25] INDEPENDENT PKD1 AND TSC2 MUTATIONS CAUSE A PHENOTYPE DIFFERENT FROM THE TYPICAL CONTIGUOUS GENE SYNDROMENEPHROLOGY DIALYSIS TRANSPLANTATION, 2014, 29 : 73 - 73Cabrera-Lopez, Cristina论文数: 0 引用数: 0 h-index: 0机构: Fundacio Puigvert, Barcelona, Spain Fundacio Puigvert, Barcelona, SpainArs, Elisabet论文数: 0 引用数: 0 h-index: 0机构: Fundacio Puigvert, Barcelona, Spain Fundacio Puigvert, Barcelona, SpainMarti, Teresa论文数: 0 引用数: 0 h-index: 0机构: Fundacio Puigvert, Barcelona, Spain Fundacio Puigvert, Barcelona, SpainHarris, Peter C.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Fundacio Puigvert, Barcelona, SpainTorra, Roser论文数: 0 引用数: 0 h-index: 0机构: Fundacio Puigvert, Barcelona, Spain Fundacio Puigvert, Barcelona, Spain
- [26] TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case reportFRONTIERS IN MEDICINE, 2023, 10Huang, Shaofang论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Affiliated Hosp 2, Dept Obstet & Gynecol, Nanchang, Peoples R China Nanchang Univ, Affiliated Hosp 2, Dept Obstet & Gynecol, Nanchang, Peoples R ChinaXu, Kangxiang论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Clin Med Coll 2, Nanchang, Peoples R China Nanchang Univ, Affiliated Hosp 2, Dept Obstet & Gynecol, Nanchang, Peoples R ChinaXu, Yuqi论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Affiliated Hosp 2, Dept Obstet & Gynecol, Nanchang, Peoples R China Nanchang Univ, Affiliated Hosp 2, Dept Obstet & Gynecol, Nanchang, Peoples R ChinaZhao, Lu论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Affiliated Hosp 2, Dept Obstet & Gynecol, Nanchang, Peoples R China Nanchang Univ, Affiliated Hosp 2, Dept Obstet & Gynecol, Nanchang, Peoples R ChinaHe, Xiaoju论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Affiliated Hosp 2, Dept Obstet & Gynecol, Nanchang, Peoples R China Nanchang Univ, Affiliated Hosp 2, Dept Obstet & Gynecol, Nanchang, Peoples R China
- [27] Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndromeKIDNEY INTERNATIONAL, 2008, 74 (11) : 1468 - 1479Consugar, Mark B.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USAWong, Wai C.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USALundquist, Patrick A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USARossetti, Sandro论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USAKubly, Vickie J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USAWalker, Denise L.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USARangel, Laureano J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Hlth Sci Res, Div Biostat, Rochester, MN 55905 USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USAAspinwall, Richard论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Weatherall Inst Mol Med, Oxford, England Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USANiaudet, W. Patrick论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Serv Nephrol Pediat, Paris, France Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USAOzen, Seza论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat, TR-06100 Ankara, Turkey Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USADavid, Albert论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Gen Med Serv, F-44035 Nantes 01, France Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USAVelinov, Milen论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USABergstralh, Eric J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Hlth Sci Res, Div Biostat, Rochester, MN 55905 USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USABae, Kyongtae T.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Radiol, Pittsburgh, PA 15260 USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USAChapman, Arlene B.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Med, Div Nephrol, Atlanta, GA USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USAGuay-Woodford, Lisa M.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama, Dept Med, Div Genet & Translat Med, Birmingham, AL 35294 USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USAGrantham, Jared J.论文数: 0 引用数: 0 h-index: 0机构: Univ Kansas, Med Ctr, Kidney Inst, Kansas City, MO USA Univ Kansas, Med Ctr, Dept Internal Med, Kansas City, MO USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USATorres, Vicente E.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USASampson, Julian R.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff, S Glam, Wales Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USADawson, Brian D.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USAHarris, Peter C.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USA Mayo Clin, Div Nephrol & Hypertens, Dept Med, Rochester, MN 55905 USA
- [28] Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (12)Ventayol-Guirado, Marc论文数: 0 引用数: 0 h-index: 0机构: Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, Spain Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, SpainTorres, Laura论文数: 0 引用数: 0 h-index: 0机构: Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, Spain Hosp Univ Son Espases, Unit Mol Diag & Clin Genet, Palma De Mallorca, Spain Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, SpainAsensio-Landa, Victor论文数: 0 引用数: 0 h-index: 0机构: Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, Spain Hosp Univ Son Espases, Unit Mol Diag & Clin Genet, Palma De Mallorca, Spain Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, SpainPerez-Granero, Angeles论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Unit Mol Diag & Clin Genet, Palma De Mallorca, Spain Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, SpainMadrid, Maria Isabel论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Unit Mol Diag & Clin Genet, Palma De Mallorca, Spain Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, SpainHernandez-Rodriguez, Jessica论文数: 0 引用数: 0 h-index: 0机构: Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, Spain Hosp Univ Son Espases, Unit Mol Diag & Clin Genet, Palma De Mallorca, Spain Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, SpainLlull-Alberti, Maria Victoria论文数: 0 引用数: 0 h-index: 0机构: Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, Spain Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, SpainLumbreras, Javier论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Pediat Dept, Palma De Mallorca, Spain Hlth Res Inst Balear Isl IdISBa, Multidisciplinary Pediat Res Grp, Palma De Mallorca, Spain Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, SpainEscriba, Silvia论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Pediat Dept, Palma De Mallorca, Spain Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, SpainPons, Monserrat论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Pediat Dept, Palma De Mallorca, Spain Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, SpainRoldan, Jordi论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Radiol Dept, Palma De Mallorca, Spain Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, SpainMartinez-Lopez, Iciar论文数: 0 引用数: 0 h-index: 0机构: Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, Spain Hosp Univ Son Espases, Unit Mol Diag & Clin Genet, Palma De Mallorca, Spain Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, SpainHeine-Suner, Damian论文数: 0 引用数: 0 h-index: 0机构: Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, Spain Hosp Univ Son Espases, Unit Mol Diag & Clin Genet, Palma De Mallorca, Spain Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, SpainSantos-Simarro, Fernando论文数: 0 引用数: 0 h-index: 0机构: Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, Spain Hosp Univ Son Espases, Unit Mol Diag & Clin Genet, Palma De Mallorca, Spain Hlth Res Inst Balear Isl IdISBa, Genom Hlth Res Grp, Carreterade Valldemossa 79, Palma De Mallorca 07120, Spain
- [29] Use of array CGH to further characterise atypical deletions at the TSC2/PKD1 contiguous gene deletion syndrome locusJOURNAL OF MEDICAL GENETICS, 2012, 49 : S61 - S61Jose, Sian论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, WalesMorgan, S. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, WalesHellmann, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, WalesSampson, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, WalesCrolla, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales
- [30] A child with TSC2/PKD1 contiguous gene deletion syndrome successfully treated with tolvaptan for rapidly enlarging renal cystsCEN CASE REPORTS, 2024, 13 (05) : 351 - 355Muroga, Chika论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Fac Med, Div Pediat & Perinatol, 36-1 Nishi Cho, Yonago, Tottori 6838504, Japan Tottori Univ, Fac Med, Div Pediat & Perinatol, 36-1 Nishi Cho, Yonago, Tottori 6838504, JapanYokoyama, Hiroki论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Fac Med, Div Pediat & Perinatol, 36-1 Nishi Cho, Yonago, Tottori 6838504, Japan Tottori Univ, Fac Med, Div Pediat & Perinatol, 36-1 Nishi Cho, Yonago, Tottori 6838504, JapanKinoshita, Ryo论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Fac Med, Div Pediat & Perinatol, 36-1 Nishi Cho, Yonago, Tottori 6838504, Japan Tottori Univ, Fac Med, Div Pediat & Perinatol, 36-1 Nishi Cho, Yonago, Tottori 6838504, JapanFujimori, Daisuke论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Fac Med, Div Pediat & Perinatol, 36-1 Nishi Cho, Yonago, Tottori 6838504, Japan Tottori Univ, Fac Med, Div Pediat & Perinatol, 36-1 Nishi Cho, Yonago, Tottori 6838504, JapanYamada, Yuko论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Fac Med, Div Pediat & Perinatol, 36-1 Nishi Cho, Yonago, Tottori 6838504, Japan Tottori Univ, Fac Med, Div Pediat & Perinatol, 36-1 Nishi Cho, Yonago, Tottori 6838504, JapanOkanishi, Tohru论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Div Child Neurol, Inst Neurol Sci, Fac Med, Yonago, Tottori 6838504, Japan Tottori Univ, Fac Med, Div Pediat & Perinatol, 36-1 Nishi Cho, Yonago, Tottori 6838504, JapanMorisada, Naoya论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Clin Genet, Kobe, Hyogo, Japan Tottori Univ, Fac Med, Div Pediat & Perinatol, 36-1 Nishi Cho, Yonago, Tottori 6838504, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构: