共 50 条
- [1] Management of Neonatal Severe Hyperparathyroidism due to Homozygous CASR Mutation: Challenges and Literature InsightsMOLECULAR SYNDROMOLOGY, 2025,Karakas, Hasan论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, Turkiye Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, TurkiyeAksakal, Nihat论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Gen Surg, Istanbul, Turkiye Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, TurkiyeTarcin, Gurkan论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, Turkiye Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, TurkiyeColakoglu, Ahsen论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat, Istanbul, Turkiye Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, TurkiyeBayram, Mehmet Emre论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat, Istanbul, Turkiye Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, TurkiyeHaslak, Gokce Velioglu论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, Turkiye Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, TurkiyeUcar, Mert论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, Turkiye Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, TurkiyeAltun, Ilayda论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, Turkiye Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, TurkiyeAydin, Dilek Bingol论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, Turkiye Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, TurkiyeTuran, Hande论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, Turkiye Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, TurkiyeBayramoglu, Elvan论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, Turkiye Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, TurkiyeEvliyaoglu, Olcay论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, Turkiye Istanbul Univ Cerrahpasa, Cerrahpasa Fac Med, Dept Pediat Endocrinol, Istanbul, Turkiye
- [2] Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutationBMC Pediatrics, 18Manuela Capozza论文数: 0 引用数: 0 h-index: 0机构: University of Bari “Aldo Moro”,Neonatology and Neonatal Intensive Care Unit, Department of Biomedical Science ad Human OncologyIolanda Chinellato论文数: 0 引用数: 0 h-index: 0机构: University of Bari “Aldo Moro”,Neonatology and Neonatal Intensive Care Unit, Department of Biomedical Science ad Human OncologyVito Guarnieri论文数: 0 引用数: 0 h-index: 0机构: University of Bari “Aldo Moro”,Neonatology and Neonatal Intensive Care Unit, Department of Biomedical Science ad Human OncologyNatascia Di lorgi论文数: 0 引用数: 0 h-index: 0机构: University of Bari “Aldo Moro”,Neonatology and Neonatal Intensive Care Unit, Department of Biomedical Science ad Human OncologyMaria Accadia论文数: 0 引用数: 0 h-index: 0机构: University of Bari “Aldo Moro”,Neonatology and Neonatal Intensive Care Unit, Department of Biomedical Science ad Human OncologyCristina Traggiai论文数: 0 引用数: 0 h-index: 0机构: University of Bari “Aldo Moro”,Neonatology and Neonatal Intensive Care Unit, Department of Biomedical Science ad Human OncologyGirolamo Mattioli论文数: 0 引用数: 0 h-index: 0机构: University of Bari “Aldo Moro”,Neonatology and Neonatal Intensive Care Unit, Department of Biomedical Science ad Human OncologyAntonio Di Mauro论文数: 0 引用数: 0 h-index: 0机构: University of Bari “Aldo Moro”,Neonatology and Neonatal Intensive Care Unit, Department of Biomedical Science ad Human OncologyNicola Laforgia论文数: 0 引用数: 0 h-index: 0机构: University of Bari “Aldo Moro”,Neonatology and Neonatal Intensive Care Unit, Department of Biomedical Science ad Human Oncology
- [3] Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutationBMC PEDIATRICS, 2018, 18Capozza, Manuela论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Biomed Sci Ad Human Oncol, Neonatol & Neonatal Intens Care Unit, Bari, Italy Policlin Hosp, Piazza Giulio Cesare 11, I-70124 Bari, Italy Univ Bari Aldo Moro, Dept Biomed Sci Ad Human Oncol, Neonatol & Neonatal Intens Care Unit, Bari, ItalyChinellato, Iolanda论文数: 0 引用数: 0 h-index: 0机构: POC SS Annunziata Hosp, SC Pediat, Taranto, Italy Univ Bari Aldo Moro, Dept Biomed Sci Ad Human Oncol, Neonatol & Neonatal Intens Care Unit, Bari, ItalyGuarnieri, Vito论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Med Genet, Foggia, Italy Univ Bari Aldo Moro, Dept Biomed Sci Ad Human Oncol, Neonatol & Neonatal Intens Care Unit, Bari, ItalyDi Iorgi, Natascia论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Ist Giannina Gaslini, Dept Pediat, Endocrine Diabet & Metab Unit, Genoa, Italy Univ Bari Aldo Moro, Dept Biomed Sci Ad Human Oncol, Neonatol & Neonatal Intens Care Unit, Bari, ItalyAccadia, Maria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Med Genet, Foggia, Italy Univ Bari Aldo Moro, Dept Biomed Sci Ad Human Oncol, Neonatol & Neonatal Intens Care Unit, Bari, ItalyTraggiai, Cristina论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Neonatol & Neonatal Intens Care Unit, Genoa, Italy Univ Bari Aldo Moro, Dept Biomed Sci Ad Human Oncol, Neonatol & Neonatal Intens Care Unit, Bari, ItalyMattioli, Girolamo论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Ist Giannina Gaslini, Pediat Surg Unit, Genoa, Italy Univ Bari Aldo Moro, Dept Biomed Sci Ad Human Oncol, Neonatol & Neonatal Intens Care Unit, Bari, ItalyDi Mauro, Antonio论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Biomed Sci Ad Human Oncol, Neonatol & Neonatal Intens Care Unit, Bari, Italy Univ Bari Aldo Moro, Dept Biomed Sci Ad Human Oncol, Neonatol & Neonatal Intens Care Unit, Bari, ItalyLaforgia, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Biomed Sci Ad Human Oncol, Neonatol & Neonatal Intens Care Unit, Bari, Italy Univ Bari Aldo Moro, Dept Biomed Sci Ad Human Oncol, Neonatol & Neonatal Intens Care Unit, Bari, Italy
- [4] Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcetBONE, 2014, 64 : 102 - 107Atay, Zeynep论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, Turkey Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, TurkeyBereket, Abdullah论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, Turkey Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, TurkeyHaliloglu, Belma论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, Turkey Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, TurkeyAbali, Saygin论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, Turkey Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, TurkeyOzdogan, Tutku论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Neonatol, TR-34899 Istanbul, Turkey Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, TurkeyAltuncu, Emel论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Neonatol, TR-34899 Istanbul, Turkey Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, TurkeyCanaff, Lucie论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Med Physiol & Human Genet, Montreal, PQ H3A 0G4, Canada Royal Victoria Hosp, Calcium Res Lab, Montreal, PQ H3A 1A1, Canada Royal Victoria Hosp, Hormones & Canc Res Unit, Montreal, PQ H3A 1A1, Canada Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, TurkeyVilaca, Tatiane论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Med Physiol & Human Genet, Montreal, PQ H3A 0G4, Canada Royal Victoria Hosp, Calcium Res Lab, Montreal, PQ H3A 1A1, Canada Royal Victoria Hosp, Hormones & Canc Res Unit, Montreal, PQ H3A 1A1, Canada Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, TurkeyWong, Betty Y. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON M5G 1L5, Canada Univ Toronto, Dept Med, Toronto, ON M5G 1L5, Canada Univ Toronto, Dept Genet, Toronto, ON M5G 1L5, Canada Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, TurkeyCole, David E. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON M5G 1L5, Canada Univ Toronto, Dept Med, Toronto, ON M5G 1L5, Canada Univ Toronto, Dept Genet, Toronto, ON M5G 1L5, Canada Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, TurkeyHendy, Geoffrey N.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Med Physiol & Human Genet, Montreal, PQ H3A 0G4, Canada Royal Victoria Hosp, Calcium Res Lab, Montreal, PQ H3A 1A1, Canada Royal Victoria Hosp, Hormones & Canc Res Unit, Montreal, PQ H3A 1A1, Canada Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, TurkeyTuran, Serap论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, Turkey Marmara Univ, Dept Pediat Endocrinol, TR-34899 Istanbul, Turkey
- [5] Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR geneEUROPEAN JOURNAL OF PEDIATRICS, 2009, 168 (05) : 569 - 573Obermannova, Barbora论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, Dept Paediat, Prague 15006, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat, Prague, Czech Republic Univ Hosp Motol, Dept Paediat, Prague 15006, Czech RepublicBanghova, Karolina论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat, Prague, Czech Republic Univ Hosp Motol, Dept Paediat, Prague 15006, Czech RepublicSumnik, Zdenek论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat, Prague, Czech Republic Univ Hosp Motol, Dept Paediat, Prague 15006, Czech RepublicDvorakova, Hana M.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Neonatol, Prague, Czech Republic Univ Hosp Motol, Dept Paediat, Prague 15006, Czech RepublicBetka, Jan论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 1, Dept Otorhinolaryngol, Prague, Czech Republic Univ Hosp Motol, Dept Paediat, Prague 15006, Czech RepublicFencl, Filip论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat, Prague, Czech Republic Univ Hosp Motol, Dept Paediat, Prague 15006, Czech RepublicKolouskova, Stanislava论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat, Prague, Czech Republic Univ Hosp Motol, Dept Paediat, Prague 15006, Czech RepublicCinek, Ondrej论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat, Prague, Czech Republic Univ Hosp Motol, Dept Paediat, Prague 15006, Czech RepublicLebl, Jan论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat, Prague, Czech Republic Univ Hosp Motol, Dept Paediat, Prague 15006, Czech Republic
- [6] A Patient with Primary Hyperparathyroidism Associated with Familial Hypocalciuric Hypercalcemia Induced by a Novel Germline CaSR Gene MutationASIAN JOURNAL OF SURGERY, 2009, 32 (02) : 118 - 122Yabuta, Tomonori论文数: 0 引用数: 0 h-index: 0机构: Kuma Hosp, Chuo Ku, Kobe, Hyogo 6500011, Japan Kuma Hosp, Chuo Ku, Kobe, Hyogo 6500011, JapanMiyauchi, Akira论文数: 0 引用数: 0 h-index: 0机构: Kuma Hosp, Chuo Ku, Kobe, Hyogo 6500011, Japan Kuma Hosp, Chuo Ku, Kobe, Hyogo 6500011, JapanInoue, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Kuma Hosp, Chuo Ku, Kobe, Hyogo 6500011, Japan Kuma Hosp, Chuo Ku, Kobe, Hyogo 6500011, JapanYoshida, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Kuma Hosp, Chuo Ku, Kobe, Hyogo 6500011, Japan Kuma Hosp, Chuo Ku, Kobe, Hyogo 6500011, JapanHirokawa, Mitsuyoshi论文数: 0 引用数: 0 h-index: 0机构: Kuma Hosp, Chuo Ku, Kobe, Hyogo 6500011, Japan Kuma Hosp, Chuo Ku, Kobe, Hyogo 6500011, JapanAmino, Nobuyuki论文数: 0 引用数: 0 h-index: 0机构: Kuma Hosp, Chuo Ku, Kobe, Hyogo 6500011, Japan Kuma Hosp, Chuo Ku, Kobe, Hyogo 6500011, Japan
- [7] Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemiaEUROPEAN JOURNAL OF MEDICAL GENETICS, 2016, 59 (04) : 227 - 231Murphy, Heidi论文数: 0 引用数: 0 h-index: 0机构: Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, New Orleans, LA 70118 USA Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, New Orleans, LA 70118 USAPatrick, Jessica论文数: 0 引用数: 0 h-index: 0机构: Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, Div Neonatol, New Orleans, LA 70118 USA Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, New Orleans, LA 70118 USABaez-Irizarry, Eileen论文数: 0 引用数: 0 h-index: 0机构: Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, Div Endocrinol, New Orleans, LA 70118 USA Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, New Orleans, LA 70118 USALacassie, Yves论文数: 0 引用数: 0 h-index: 0机构: Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, Div Genet, New Orleans, LA 70118 USA Childrens Hosp New Orleans, Dept Genet, New Orleans, LA USA Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, New Orleans, LA 70118 USAGomez, Ricardo论文数: 0 引用数: 0 h-index: 0机构: Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, Div Endocrinol, New Orleans, LA 70118 USA Childrens Hosp New Orleans, Dept Endocrinol, New Orleans, LA USA Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, New Orleans, LA 70118 USAVargas, Alfonso论文数: 0 引用数: 0 h-index: 0机构: Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, Div Endocrinol, New Orleans, LA 70118 USA Childrens Hosp New Orleans, Dept Endocrinol, New Orleans, LA USA Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, New Orleans, LA 70118 USABarkemeyer, Brian论文数: 0 引用数: 0 h-index: 0机构: Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, Div Neonatol, New Orleans, LA 70118 USA Childrens Hosp New Orleans, Dept Neonatol, New Orleans, LA USA Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, New Orleans, LA 70118 USAKanotra, Sohit论文数: 0 引用数: 0 h-index: 0机构: Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, Div Otorlaryngol, New Orleans, LA 70118 USA Childrens Hosp New Orleans, Dept Otolaryngol, New Orleans, LA USA Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, New Orleans, LA 70118 USAZambrano, Regina M.论文数: 0 引用数: 0 h-index: 0机构: Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, Div Genet, New Orleans, LA 70118 USA Childrens Hosp New Orleans, Dept Genet, New Orleans, LA USA Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, New Orleans, LA 70118 USA
- [8] Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR geneEuropean Journal of Pediatrics, 2009, 168 : 569 - 573Barbora Obermannova论文数: 0 引用数: 0 h-index: 0机构: Charles University in Prague,Department of Paediatrics, Second Faculty of MedicineKarolina Banghova论文数: 0 引用数: 0 h-index: 0机构: Charles University in Prague,Department of Paediatrics, Second Faculty of MedicineZdenek Sumník论文数: 0 引用数: 0 h-index: 0机构: Charles University in Prague,Department of Paediatrics, Second Faculty of MedicineHana M. Dvorakova论文数: 0 引用数: 0 h-index: 0机构: Charles University in Prague,Department of Paediatrics, Second Faculty of MedicineJan Betka论文数: 0 引用数: 0 h-index: 0机构: Charles University in Prague,Department of Paediatrics, Second Faculty of MedicineFilip Fencl论文数: 0 引用数: 0 h-index: 0机构: Charles University in Prague,Department of Paediatrics, Second Faculty of MedicineStanislava Kolouskova论文数: 0 引用数: 0 h-index: 0机构: Charles University in Prague,Department of Paediatrics, Second Faculty of MedicineOndrej Cinek论文数: 0 引用数: 0 h-index: 0机构: Charles University in Prague,Department of Paediatrics, Second Faculty of MedicineJan Lebl论文数: 0 引用数: 0 h-index: 0机构: Charles University in Prague,Department of Paediatrics, Second Faculty of Medicine
- [9] Novel homozygous inactivating mutation of the calcium-sensing receptor gene in neonatal severe hyperparathyroidism responding to cinacalcet therapy A case report and literature reviewMEDICINE, 2018, 97 (45)Sun, Xiaomei论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Key Lab Birth Defects & Related Dis Women & Child, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R ChinaHuang, Liang论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Key Lab Birth Defects & Related Dis Women & Child, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Evidence Based Pharm Ctr, Dept Pharmacy, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R ChinaWu, Jin论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Key Lab Birth Defects & Related Dis Women & Child, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R ChinaTao, Yuhong论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Key Lab Birth Defects & Related Dis Women & Child, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R ChinaYang, Fan论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Key Lab Birth Defects & Related Dis Women & Child, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu 610041, Sichuan, Peoples R China
- [10] A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorderJOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2014, 27 (9-10) : 851 - 856论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Diamond, Frank论文数: 0 引用数: 0 h-index: 0机构: All Childrens Hosp, Johns Hopkins Med, St Petersburg, FL USA Univ Tennessee, Le Bonheur Childrens Hosp, Hlth Sci Ctr, Memphis, TN 38103 USAMueller, O. Thomas论文数: 0 引用数: 0 h-index: 0机构: ACH Mol Genet Lab, St Petersburg, FL USA Univ Tennessee, Le Bonheur Childrens Hosp, Hlth Sci Ctr, Memphis, TN 38103 USARoot, Allen W.论文数: 0 引用数: 0 h-index: 0机构: All Childrens Hosp, Johns Hopkins Med, St Petersburg, FL USA Univ Tennessee, Le Bonheur Childrens Hosp, Hlth Sci Ctr, Memphis, TN 38103 USAAlyaarubi, Saif论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ Hosp, Muscat, Oman Univ Tennessee, Le Bonheur Childrens Hosp, Hlth Sci Ctr, Memphis, TN 38103 USA