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- [31] Elemental Milk Formula as a Possible Cause of Hypophosphatemic Rickets in Wiedemann-Steiner SyndromeJOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2024, 16 (03) : 355 - 360Al-Juraibah, Fahad论文数: 0 引用数: 0 h-index: 0机构: King Abdullah Specialist Childrens Hosp, Clin Pediat, Riyadh, Saudi Arabia King Saud bin Abdul Aziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia King Abdullah Int Med Res Ctr, Riyadh, Saudi Arabia King Abdullah Specialist Childrens Hosp, Clin Pediat, Riyadh, Saudi ArabiaMelha, Maali论文数: 0 引用数: 0 h-index: 0机构: King Abdullah Specialist Childrens Hosp, Clin Pediat, Riyadh, Saudi Arabia King Abdullah Specialist Childrens Hosp, Clin Pediat, Riyadh, Saudi ArabiaAlromaih, Azam论文数: 0 引用数: 0 h-index: 0机构: King Saud bin Abdul Aziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia King Abdullah Specialist Childrens Hosp, Clin Pediat, Riyadh, Saudi ArabiaAl-Sunaid, Areej论文数: 0 引用数: 0 h-index: 0机构: King Abdullah Specialist Childrens Hosp, Clin Pediat, Riyadh, Saudi Arabia King Saud bin Abdul Aziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia King Abdullah Int Med Res Ctr, Riyadh, Saudi Arabia King Abdullah Specialist Childrens Hosp, Clin Pediat, Riyadh, Saudi ArabiaAlkhalaf, Hamad Abdullah论文数: 0 引用数: 0 h-index: 0机构: King Abdullah Specialist Childrens Hosp, Clin Pediat, Riyadh, Saudi Arabia King Saud bin Abdul Aziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia King Abdullah Int Med Res Ctr, Riyadh, Saudi Arabia King Abdullah Specialist Childrens Hosp, Clin Pediat, Riyadh, Saudi Arabia
- [32] Wiedemann-Steiner Syndrome: clinical and molecular characterization of 11 patients from four Portuguese hospital centersEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 368 - 369Fernandes, S.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, PortugalRosas, C. S.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, PortugalSoeiro e Sa, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Dept Pediat, Ctr Hosp Lisboa Norte, Ctr Acad Med Lisboa,Serv Genet Med,EPE, Lisbon, Portugal Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, PortugalCarvalho, I.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Lisboa Cent, Hosp Dona Estefania, Med Genet Unit, Lisbon, Portugal Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, PortugalRodrigues, M.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Lisboa Cent, Hosp Dona Estefania, Med Genet Unit, Lisbon, Portugal Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, PortugalLouro, P.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal Univ Beira Interior, Fac Hlth Sci, Covilha, Portugal Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugalde Sa, J.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, PortugalSoares, G.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Porto, Serv Genet Med Dr Jacinto Magalhaes, Porto, Portugal Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, PortugalDias, P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Dept Pediat, Ctr Hosp Lisboa Norte, Ctr Acad Med Lisboa,Serv Genet Med,EPE, Lisbon, Portugal Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, PortugalRamos, L.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal Univ Beira Interior, Fac Hlth Sci, Covilha, Portugal Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, PortugalSaraiva, J. M.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal Univ Coimbra, Univ Clin Pediat, Fac Med, Coimbra, Portugal Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, PortugalSousa, S. B.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal Univ Coimbra, Fac Med, Univ Clin Genet, Coimbra, Portugal Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, Coimbra, Portugal
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- [34] Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner SyndromeCUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (04)Rios, Fabiola A. Benitez论文数: 0 引用数: 0 h-index: 0机构: Ponce Hlth Sci Univ, Biochem, Ponce, PR 00716 USA Ponce Hlth Sci Univ, Biochem, Ponce, PR 00716 USARodriguez-Fernandez, Laura F.论文数: 0 引用数: 0 h-index: 0机构: Ponce Hlth Sci Univ, Biochem, Ponce, PR 00716 USA Ponce Hlth Sci Univ, Biochem, Ponce, PR 00716 USAArciniegas, Norma J.论文数: 0 引用数: 0 h-index: 0机构: Ponce Hlth Sci Univ, Pediat, Ponce, PR USA Mayaguez Med Ctr, Pediat, Mayaguez, PR USA Ponce Hlth Sci Univ, Biochem, Ponce, PR 00716 USACornier, Alberto Santiago论文数: 0 引用数: 0 h-index: 0机构: Ponce Hlth Sci Univ, Publ Hlth, Ponce, PR USA San Jorge Childrens & Womans Hosp, Genet, San Juan, Argentina Ponce Hlth Sci Univ, Biochem, Ponce, PR 00716 USACarlo, Simoen论文数: 0 引用数: 0 h-index: 0机构: Ponce Hlth Sci Univ, Biochem, Ponce, PR 00716 USA Mayaguez Med Ctr, Genet Pediat, Mayaguez, PR 00681 USA Ponce Hlth Sci Univ, Biochem, Ponce, PR 00716 USA
- [35] Wiedemann-steiner syndrome with a de novo mutation in KMT2A A case reportMEDICINE, 2020, 99 (16) : E19813Liu Jinxiu论文数: 0 引用数: 0 h-index: 0机构: Yinfeng Med Lab, 1109 Gangxing Three Rd, Jinan 250000, Shandong, Peoples R China Yinfeng Med Lab, 1109 Gangxing Three Rd, Jinan 250000, Shandong, Peoples R ChinaLiang Shuimei论文数: 0 引用数: 0 h-index: 0机构: Yinfeng Med Lab, 1109 Gangxing Three Rd, Jinan 250000, Shandong, Peoples R China Yinfeng Med Lab, 1109 Gangxing Three Rd, Jinan 250000, Shandong, Peoples R ChinaXue Ming论文数: 0 引用数: 0 h-index: 0机构: Taian Matern & Child Care Hosp, Genet Diagnost Lab, 386 Longtan Rd, Tai An 271000, Shandong, Peoples R China Yinfeng Med Lab, 1109 Gangxing Three Rd, Jinan 250000, Shandong, Peoples R ChinaJonathan, Liu C. S.论文数: 0 引用数: 0 h-index: 0机构: SoftGenet LLC, 100 Oakwood Ave, State Coll, PA 16803 USA Yinfeng Med Lab, 1109 Gangxing Three Rd, Jinan 250000, Shandong, Peoples R ChinaLiu Xiangju论文数: 0 引用数: 0 h-index: 0机构: Taian Matern & Child Care Hosp, Genet Diagnost Lab, 386 Longtan Rd, Tai An 271000, Shandong, Peoples R China Yinfeng Med Lab, 1109 Gangxing Three Rd, Jinan 250000, Shandong, Peoples R ChinaDuan Wenyuan论文数: 0 引用数: 0 h-index: 0机构: Yinfeng Med Lab, 1109 Gangxing Three Rd, Jinan 250000, Shandong, Peoples R China Yinfeng Med Lab, 1109 Gangxing Three Rd, Jinan 250000, Shandong, Peoples R China
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Univ, Sch Med, Baltimore, MD 21218 USA Univ Penn, Philadelphia, PA 19104 USAFahrner, Jill论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Baltimore, MD 21218 USA Univ Penn, Philadelphia, PA 19104 USAFatemi, Ali论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Baltimore, MD 21218 USA Univ Penn, Philadelphia, PA 19104 USAHarris, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Baltimore, MD 21218 USA Univ Penn, Philadelphia, PA 19104 USANowak, Catherine论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Univ Penn, Philadelphia, PA 19104 USAStevens, Cathy论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Coll Med, Knoxville, TN 37996 USA Univ Penn, Philadelphia, PA 19104 USAGrand, Katheryn论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Univ Penn, Philadelphia, PA 19104 USAAu, Margaret论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Univ Penn, Philadelphia, PA 19104 USAGraham, John论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Univ Penn, Philadelphia, PA 19104 USASanchez-Lara, Pedro论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Univ Penn, Philadelphia, PA 19104 USADel Campo, Miguel论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, La Jolla, CA 92093 USA Univ Penn, Philadelphia, PA 19104 USAJones, Marilyn论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, La Jolla, CA 92093 USA Univ Penn, Philadelphia, PA 19104 USAAbdul-Rahman, Omar论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Omaha, NE USA Univ Penn, Philadelphia, PA 19104 USAAlkuraya, Fowzan论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Riyadh, Saudi Arabia Univ Penn, Philadelphia, PA 19104 USABassetti, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med, New York, NY USA Univ Penn, Philadelphia, PA 19104 USABergstrom, Katherine论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med, New York, NY USA Univ Penn, Philadelphia, PA 19104 USABhoj, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Univ Penn, Philadelphia, PA 19104 USADugan, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Salt Lake City, UT 84112 USA Univ Penn, Philadelphia, PA 19104 USAKaplan, Julie论文数: 0 引用数: 0 h-index: 0机构: Alfred I duPont Hosp Children, Wilmington, DE USA Univ Penn, Philadelphia, PA 19104 USADerar, Nada论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Riyadh, Saudi Arabia Univ Penn, Philadelphia, PA 19104 USAGripp, Karen W.论文数: 0 引用数: 0 h-index: 0机构: Alfred I duPont Hosp Children, Wilmington, DE USA Univ Penn, Philadelphia, PA 19104 USAHauser, Natalie论文数: 0 引用数: 0 h-index: 0机构: Inova Translat Med Inst, Falls Church, VA USA Univ Penn, Philadelphia, PA 19104 USAInnes, Micheil论文数: 0 引用数: 0 h-index: 0机构: Alberta Childrens Prov Gen Hosp, Calgary, AB, Canada Univ Penn, Philadelphia, PA 19104 USAKeena, Beth论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Univ Penn, Philadelphia, PA 19104 USAKodra, Neslida论文数: 0 引用数: 0 h-index: 0机构: Inova Translat Med Inst, Falls Church, VA USA Univ Penn, Philadelphia, PA 19104 USAMiller, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Inova Translat Med Inst, Falls Church, VA USA Univ Penn, Philadelphia, PA 19104 USANelson, Beverly论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ, True Blue, Grenada Univ Penn, Philadelphia, PA 19104 USANowaczyk, Malgorzata论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Hamilton, ON, Canada Univ Penn, Philadelphia, PA 19104 USARahbeeni, Zuhair论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Riyadh, Saudi Arabia Univ Penn, Philadelphia, PA 19104 USABen-Shachar, Shay论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Med Ctr & Sch Med, Tel Aviv, Israel Univ Penn, Philadelphia, PA 19104 USAShieh, Joseph论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Univ Penn, Philadelphia, PA 19104 USASlavotinek, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Univ Penn, Philadelphia, PA 19104 USASobering, Andrew论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ, True Blue, Grenada Univ Penn, Philadelphia, PA 19104 USAAbbott, Mary-Alice论文数: 0 引用数: 0 h-index: 0机构: Univ Massachusetts, Med Sch, Amherst, MA 01003 USA Univ Penn, Philadelphia, PA 19104 USAAllain, Dawn论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Wexner Med Ctr, Columbus, OH 43210 USA Univ Penn, Philadelphia, PA 19104 USAAmlie-Wolf, Louise论文数: 0 引用数: 0 h-index: 0机构: Alfred I duPont Hosp Children, Wilmington, DE USA Univ Penn, Philadelphia, PA 19104 USAAu, Ping Yee Billie论文数: 0 引用数: 0 h-index: 0机构: Alberta Childrens Prov Gen Hosp, Res Inst, Calgary, AB, Canada Univ Penn, Philadelphia, PA 19104 USABedoukian, Emma论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Univ Penn, Philadelphia, PA 19104 USABeek, Geoffrey论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Minnesota, Minneapolis, MN USA Univ Penn, Philadelphia, PA 19104 USABarry, James论文数: 0 引用数: 0 h-index: 0机构: San Antonio Mil Med Ctr, San Antonio, TX USA Univ Penn, Philadelphia, PA 19104 USABerg, Janet论文数: 0 引用数: 0 h-index: 0机构: San Antonio Mil Med Ctr, San Antonio, TX USA Univ Penn, Philadelphia, PA 19104 USABernstein, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Univ Penn, Philadelphia, PA 19104 USACytrynbaum, Cheryl论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON, Canada Univ Penn, Philadelphia, PA 19104 USAChung, Brian Hon-Yin论文数: 0 引用数: 0 h-index: 0机构: Hong Kong Childrens Hosp, Hong Kong, Peoples R China Univ Penn, Philadelphia, PA 19104 USA
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