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- [1] Rubinstein-Taybi syndrome (CREBBP, EP300)EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (01) : 3 - 3van Belzen, Martine论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ Med Ctr, Dept Clin Genet, Leiden, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, NetherlandsBartsch, Oliver论文数: 0 引用数: 0 h-index: 0机构: Johannes Gutenberg Univ Mainz, Med Ctr, Inst Human Genet, Mainz, Germany Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, NetherlandsLacombe, Didier论文数: 0 引用数: 0 h-index: 0机构: Bordeaux Univ Hosp, Dept Med Genet, Bordeaux, France Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, NetherlandsPeters, Dorien J. M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ Med Ctr, Dept Human Genet, Leiden, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, NetherlandsHennekam, Raoul C. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands
- [2] Rubinstein–Taybi syndrome (CREBBP, EP300)European Journal of Human Genetics, 2011, 19 : 3 - 3Martine van Belzen论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of Clinical GeneticsOliver Bartsch论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of Clinical GeneticsDidier Lacombe论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of Clinical GeneticsDorien J M Peters论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of Clinical GeneticsRaoul C M Hennekam论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of Clinical Genetics
- [3] A BOY WITH CLASSICAL RUBINSTEIN-TAYBI SYNDROME BUT NO DETECTABLE MUTATION IN THE CREBBP AND EP300 GENESGENETIC COUNSELING, 2011, 22 (04): : 341 - 346Caglayan, A. O.论文数: 0 引用数: 0 h-index: 0机构: Kayseri Educ & Res Hosp, Dept Med Genet, TR-38010 Kayseri, Turkey Kayseri Educ & Res Hosp, Dept Med Genet, TR-38010 Kayseri, TurkeyLechno, S.论文数: 0 引用数: 0 h-index: 0机构: Johannes Gutenberg Univ Mainz, Inst Human Genet, Sch Med, Mainz, Germany Kayseri Educ & Res Hosp, Dept Med Genet, TR-38010 Kayseri, TurkeyGumus, H.论文数: 0 引用数: 0 h-index: 0机构: Erciyes Univ, Fac Med, Dept Pediat, Kayseri, Turkey Kayseri Educ & Res Hosp, Dept Med Genet, TR-38010 Kayseri, TurkeyBartsch, O.论文数: 0 引用数: 0 h-index: 0机构: Johannes Gutenberg Univ Mainz, Inst Human Genet, Sch Med, Mainz, Germany Kayseri Educ & Res Hosp, Dept Med Genet, TR-38010 Kayseri, TurkeyFryns, J. P.论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, Louvain, Belgium Kayseri Educ & Res Hosp, Dept Med Genet, TR-38010 Kayseri, Turkey
- [4] Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGHEUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (01) : 43 - 49Tsai, Anne Chun-Hui论文数: 0 引用数: 0 h-index: 0机构: UC Denver, Childrens Hosp, Sect Clin Genet & Metab, Aurora, CO USA Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USADossett, Cherilyn J.论文数: 0 引用数: 0 h-index: 0机构: UC Denver, Childrens Hosp, Sect Clin Genet & Metab, Aurora, CO USA Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USAWalton, Carol S.论文数: 0 引用数: 0 h-index: 0机构: UC Denver, Childrens Hosp, Sect Clin Genet & Metab, Aurora, CO USA Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USACramer, Andrea E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USAEng, Patti A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USANowakowska, Beata A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USA Inst Mother & Child Hlth, Dept Med Genet, Warsaw, Poland Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USAPursley, Amber N.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USAStankiewicz, Pawel论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USA Inst Mother & Child Hlth, Dept Med Genet, Warsaw, Poland Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USAWiszniewska, Joanna论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USACheung, Sau Wai论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Med Genet Labs, Houston, TX 77030 USA
- [5] Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cellsCARCINOGENESIS, 2020, 41 (03) : 257 - 266Dutto, Ilaria论文数: 0 引用数: 0 h-index: 0机构: CNR, Ist Genet Mol, Unita Stabilita Genoma, Via Abbiategrasso 207, I-27100 Pavia, Italy Inst Res Biomed, C Baldiri Reixac 10, Barcelona 08028, Spain CNR, Ist Genet Mol, Unita Stabilita Genoma, Via Abbiategrasso 207, I-27100 Pavia, ItalyScalera, Claudia论文数: 0 引用数: 0 h-index: 0机构: CNR, Ist Genet Mol, Unita Stabilita Genoma, Via Abbiategrasso 207, I-27100 Pavia, Italy CNR, Ist Genet Mol, Unita Stabilita Genoma, Via Abbiategrasso 207, I-27100 Pavia, ItalyTillhon, Micol论文数: 0 引用数: 0 h-index: 0机构: CNR, Ist Genet Mol, Unita Stabilita Genoma, Via Abbiategrasso 207, I-27100 Pavia, Italy Ist Oncol Europeo, Via Adamello 16, I-20139 Milan, Italy CNR, Ist Genet Mol, Unita Stabilita Genoma, Via Abbiategrasso 207, I-27100 Pavia, Italy论文数: 引用数: h-index:机构:Passaniti, Gianluca论文数: 0 引用数: 0 h-index: 0机构: CNR, Ist Genet Mol, Unita Stabilita Genoma, Via Abbiategrasso 207, I-27100 Pavia, Italy CNR, Ist Genet Mol, Unita Stabilita Genoma, Via Abbiategrasso 207, I-27100 Pavia, Italy论文数: 引用数: h-index:机构:Savio, Monica论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dipartimento Med Mol, Unita Immunol & Patol Gen, Via Ferrata 9, I-27100 Pavia, Italy CNR, Ist Genet Mol, Unita Stabilita Genoma, Via Abbiategrasso 207, I-27100 Pavia, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Larizza, Lidia论文数: 0 引用数: 0 h-index: 0机构: Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Ctr Ric & Tecnol Biomed, Via Ariosto 13, I-20145 Milan, Italy CNR, Ist Genet Mol, Unita Stabilita Genoma, Via Abbiategrasso 207, I-27100 Pavia, ItalyProsperi, Ennio论文数: 0 引用数: 0 h-index: 0机构: CNR, Ist Genet Mol, Unita Stabilita Genoma, Via Abbiategrasso 207, I-27100 Pavia, Italy CNR, Ist Genet Mol, Unita Stabilita Genoma, Via Abbiategrasso 207, I-27100 Pavia, Italy
- [6] Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (04) : 862 - 876Menke, Leonie A.论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsGardeitchik, Thatjana论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsHammond, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Big Data Inst, Oxford, England Univ Oxford, Nuffield Dept Obstet & Gynaecol, Oxford, England Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsHeimdal, Ketil R.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsHouge, Gunnar论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Ctr Med Genet & Mol Med, Bergen, Norway Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsHufnagel, Sophia B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Div Genet & Metab, Washington, DC USA Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsJi, Jianling论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Los Angeles, Dept Pathol, Div Genom Med, Los Angeles, CA 90027 USA Keck USC Sch Med, Los Angeles, CA USA Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsJohansson, Stefan论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Ctr Med Genet & Mol Med, Bergen, Norway Univ Bergen, Dept Clin Sci, KG Jebsen Ctr Neuropsychiat Disorders, Bergen, Norway Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsKant, Sarina G.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsKinning, Esther论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Univ Hosp, West Scotland Genet Serv, Glasgow, Lanark, Scotland Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsLeon, Eyby L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Div Genet & Metab, Washington, DC USA Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsNewbury-Ecob, Ruth论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol, Dept Clin Genet, Bristol, Avon, England Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsPaolacci, Stefano论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Dept Expt Med, Rome, Italy Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsPfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsRagge, Nicola K.论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens Hosp, Birmingham, W Midlands, England Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsRinne, Tuula论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands论文数: 引用数: h-index:机构:Saitta, Sulagna C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Los Angeles, Dept Pathol, Div Genom Med, Los Angeles, CA 90027 USA Keck USC Sch Med, Los Angeles, CA USA Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsSun, Yu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Pediat Endocrinol Genet, Xinhua Hosp, Sch Med,Shanghai Inst Pediat Res, Shanghai, Peoples R China Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsTartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsTerhal, Paulien A.论文数: 0 引用数: 0 h-index: 0机构: Wilhelmina Childrens Hosp, Dept Genet, Utrecht, Netherlands Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlandsvan Essen, Anthony J.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsVigeland, Magnus D.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsXiao, Bing论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Pediat Endocrinol Genet, Xinhua Hosp, Sch Med,Shanghai Inst Pediat Res, Shanghai, Peoples R China Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, NetherlandsHennekam, Raoul C.论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands Acad Med Ctr, Dept Pediat, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands
- [7] Expansion of the phenotypic spectrum in Rubinstein-Taybi syndrome associated with novel variants in EP300 and CREBBPEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 498 - 499Ciara, E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandCieslikowska, A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandIwanowski, P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandWicher, D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandJurkiewicz, D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, Poland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:Chalupczynska, B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandHalat, P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandKowalski, P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandPelc, M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandPiekutowska-Abramczuk, D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandSiestrzykowska, D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandKugaudo, M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandGieruszczak-Bialek, D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandSkorka, A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Med Univ Warsaw, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandJedrzejowska, M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Med Univ Warsaw, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandIwanicka-Pronicka, K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandChrzanowska, K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandZemojtel, T.论文数: 0 引用数: 0 h-index: 0机构: Charite, Inst Med Genet & Human Genet, Berlin, Germany Childrens Mem Hlth Inst, Warsaw, PolandRobinson, P. N.论文数: 0 引用数: 0 h-index: 0机构: Charite, Inst Med Genet & Human Genet, Berlin, Germany Childrens Mem Hlth Inst, Warsaw, PolandPloski, R.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, PolandKrajewska-Walasek, M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Warsaw, Poland Childrens Mem Hlth Inst, Warsaw, Poland
- [8] Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case reportBMC MEDICAL GENETICS, 2019, 20Al-Qattan, Mohammad M.论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Div Plast Surg, POB 18097, Riyadh 11415, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Div Plast Surg, POB 18097, Riyadh 11415, Saudi Arabia King Abdul Aziz Med City, Minist Natl Guard Hlth Affairs, Div Plast Surg, POB 18097, Riyadh 11415, Saudi Arabia King Saud Univ, Div Plast Surg, POB 18097, Riyadh 11415, Saudi ArabiaJarman, Abdulaziz论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Div Plast Surg, POB 18097, Riyadh 11415, Saudi Arabia King Saud Univ, Div Plast Surg, POB 18097, Riyadh 11415, Saudi ArabiaRafique, Atif论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Div Plast Surg, POB 18097, Riyadh 11415, Saudi Arabia King Saud Univ, Div Plast Surg, POB 18097, Riyadh 11415, Saudi ArabiaAl-Hassnan, Zuhair N.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia King Saud Univ, Div Plast Surg, POB 18097, Riyadh 11415, Saudi ArabiaAl-Qattan, Heba M.论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Div Plast Surg, POB 18097, Riyadh 11415, Saudi Arabia King Saud Univ, Div Plast Surg, POB 18097, Riyadh 11415, Saudi Arabia
- [9] Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (04) : 1251 - 1255Wild, K. Taylor论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neonatol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USANomakuchi, Tomoki T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USASheppard, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USALeavens, Karla F.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USADe Leon, Diva D.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USAZackai, Elaine H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
- [10] CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndromeMOLECULAR GENETICS & GENOMIC MEDICINE, 2016, 4 (01): : 39 - 45Wincent, Josephine论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Mol Med, Karolinska Inst, Dept Mol Med & Surg,CMM L8 02, S-17176 Stockholm, Sweden Karolinska Univ Hosp, Ctr Mol Med, Karolinska Inst, Dept Mol Med & Surg,CMM L8 02, S-17176 Stockholm, SwedenLuthman, Aron论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Mol Med, Karolinska Inst, Dept Mol Med & Surg,CMM L8 02, S-17176 Stockholm, Sweden Karolinska Univ Hosp, Ctr Mol Med, Karolinska Inst, Dept Mol Med & Surg,CMM L8 02, S-17176 Stockholm, Swedenvan Belzen, Martine论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Karolinska Univ Hosp, Ctr Mol Med, Karolinska Inst, Dept Mol Med & Surg,CMM L8 02, S-17176 Stockholm, Swedenvan der Lans, Christian论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Karolinska Univ Hosp, Ctr Mol Med, Karolinska Inst, Dept Mol Med & Surg,CMM L8 02, S-17176 Stockholm, SwedenAlbert, Johanna论文数: 0 引用数: 0 h-index: 0机构: Danderyd Hosp, Karolinska Inst, Dept Clin Sci, Div Surg, Stockholm, Sweden Karolinska Univ Hosp, Ctr Mol Med, Karolinska Inst, Dept Mol Med & Surg,CMM L8 02, S-17176 Stockholm, SwedenNordgren, Ann论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Mol Med, Karolinska Inst, Dept Mol Med & Surg,CMM L8 02, S-17176 Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Univ Hosp, Ctr Mol Med, Karolinska Inst, Dept Mol Med & Surg,CMM L8 02, S-17176 Stockholm, SwedenAnderlid, Britt-Marie论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Mol Med, Karolinska Inst, Dept Mol Med & Surg,CMM L8 02, S-17176 Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Univ Hosp, Ctr Mol Med, Karolinska Inst, Dept Mol Med & Surg,CMM L8 02, S-17176 Stockholm, Sweden