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- [1] Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndromeJOURNAL OF HUMAN GENETICS, 2014, 59 (06) : 321 - 325论文数: 引用数: h-index:机构:Sohn, Young Bae论文数: 0 引用数: 0 h-index: 0机构: Ajou Univ, Sch Med, Dept Med Genet, Suwon 441749, South Korea Pusan Natl Univ, Sch Med, Childrens Hosp, Dept Pediat Pediat Genet & Metab, Yangsan, South KoreaKo, Jung Min论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Pediat, Seoul 110769, South Korea Pusan Natl Univ, Sch Med, Childrens Hosp, Dept Pediat Pediat Genet & Metab, Yangsan, South Korea论文数: 引用数: h-index:机构:Song, Ji Sun论文数: 0 引用数: 0 h-index: 0机构: Pusan Natl Univ, Sch Med, Childrens Hosp, Dept Pediat Pediat Genet & Metab, Yangsan, South Korea Pusan Natl Univ, Yangsan Hosp, Res Inst Convergence Biomed Sci & Technol, Yangsan, South Korea Pusan Natl Univ, Sch Med, Childrens Hosp, Dept Pediat Pediat Genet & Metab, Yangsan, South KoreaMoon, Jea Woo论文数: 0 引用数: 0 h-index: 0机构: TBI, Suwon, South Korea Pusan Natl Univ, Sch Med, Childrens Hosp, Dept Pediat Pediat Genet & Metab, Yangsan, South KoreaYang, Bo Kyoung论文数: 0 引用数: 0 h-index: 0机构: TBI, Suwon, South Korea Pusan Natl Univ, Sch Med, Childrens Hosp, Dept Pediat Pediat Genet & Metab, Yangsan, South KoreaHa, Il Soo论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Pediat, Seoul 110769, South Korea Pusan Natl Univ, Sch Med, Childrens Hosp, Dept Pediat Pediat Genet & Metab, Yangsan, South KoreaBae, Eun Jung论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Pediat, Seoul 110769, South Korea Pusan Natl Univ, Sch Med, Childrens Hosp, Dept Pediat Pediat Genet & Metab, Yangsan, South KoreaJin, Hyun-Seok论文数: 0 引用数: 0 h-index: 0机构: Ajou Univ, Sch Med, Dept Med Genet, Suwon 441749, South Korea Pusan Natl Univ, Sch Med, Childrens Hosp, Dept Pediat Pediat Genet & Metab, Yangsan, South KoreaJeong, Seon-Yong论文数: 0 引用数: 0 h-index: 0机构: Ajou Univ, Sch Med, Dept Med Genet, Suwon 441749, South Korea Pusan Natl Univ, Sch Med, Childrens Hosp, Dept Pediat Pediat Genet & Metab, Yangsan, South Korea
- [2] Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndromeJournal of Human Genetics, 2014, 59 : 321 - 325Chong Kun Cheon论文数: 0 引用数: 0 h-index: 0机构: Pediatric Genetics and Metabolism,Department of PediatricsYoung Bae Sohn论文数: 0 引用数: 0 h-index: 0机构: Pediatric Genetics and Metabolism,Department of PediatricsJung Min Ko论文数: 0 引用数: 0 h-index: 0机构: Pediatric Genetics and Metabolism,Department of PediatricsYeoun Joo Lee论文数: 0 引用数: 0 h-index: 0机构: Pediatric Genetics and Metabolism,Department of PediatricsJi Sun Song论文数: 0 引用数: 0 h-index: 0机构: Pediatric Genetics and Metabolism,Department of PediatricsJea Woo Moon论文数: 0 引用数: 0 h-index: 0机构: Pediatric Genetics and Metabolism,Department of PediatricsBo Kyoung Yang论文数: 0 引用数: 0 h-index: 0机构: Pediatric Genetics and Metabolism,Department of PediatricsIl Soo Ha论文数: 0 引用数: 0 h-index: 0机构: Pediatric Genetics and Metabolism,Department of PediatricsEun Jung Bae论文数: 0 引用数: 0 h-index: 0机构: Pediatric Genetics and Metabolism,Department of PediatricsHyun-Seok Jin论文数: 0 引用数: 0 h-index: 0机构: Pediatric Genetics and Metabolism,Department of PediatricsSeon-Yong Jeong论文数: 0 引用数: 0 h-index: 0机构: Pediatric Genetics and Metabolism,Department of Pediatrics
- [3] Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disordersGENE, 2020, 731Yap, Chui-Sun论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Res Lab, Singapore, Singapore Hlth Sci Author, Cell Therapy Facil, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, Singapore, SingaporeJamuar, Saumya Shekhar论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore SingHlth Duke NUS Med Sch, Paediat Acad Clin Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, Singapore, SingaporeLai, Angeline H. M.论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore SingHlth Duke NUS Med Sch, Paediat Acad Clin Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, Singapore, SingaporeTan, Ee-Shien论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore SingHlth Duke NUS Med Sch, Paediat Acad Clin Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, Singapore, SingaporeNg, Ivy论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore SingHlth Duke NUS Med Sch, Paediat Acad Clin Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, Singapore, SingaporeTing, Teck Wah论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore SingHlth Duke NUS Med Sch, Paediat Acad Clin Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, Singapore, SingaporeTan, Ene-Choo论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Res Lab, Singapore, Singapore KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore SingHlth Duke NUS Med Sch, Paediat Acad Clin Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, Singapore, Singapore
- [4] Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (10) : 2333 - 2344Murakami, Hiroaki论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanTsurusaki, Yoshinori论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Clin Res Inst, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanEnomoto, Keisuke论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanKuroda, Yukiko论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanYokoi, Takayuki论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanFuruya, Noritaka论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanYoshihashi, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanMinatogawa, Mari论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanAbe-Hatano, Chihiro论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanOhashi, Ikuko论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanNishimura, Naoto论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanKumaki, Tatsuro论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanEnomoto, Yumi论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Clin Res Inst, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanNaruto, Takuya论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Clin Res Inst, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanIwasaki, Fuminori论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Hematol Oncol, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanHarada, Noriaki论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Dept Clin Lab, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanIshikawa, Aki论文数: 0 引用数: 0 h-index: 0机构: Sapporo Med Univ, Dept Med Genet & Genom, Sch Med, Sapporo, Hokkaido, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanKawame, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Grad Sch Med, Sendai, Miyagi, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanSameshima, Kiyoko论文数: 0 引用数: 0 h-index: 0机构: Gunma Childrens Med Ctr, Div Med Genet, Gunma, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanYamaguchi, Yu论文数: 0 引用数: 0 h-index: 0机构: Gunma Childrens Med Ctr, Div Med Genet, Gunma, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanKobayashi, Masahisa论文数: 0 引用数: 0 h-index: 0机构: Jikei Univ, Dept Pediat, Sch Med, Tokyo, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanTominaga, Makiko论文数: 0 引用数: 0 h-index: 0机构: Showa Univ, Northern Yokohama Hosp, Childrens Med Ctr, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanIshikiriyama, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Childrens Hosp, Div Clin Genet & Cytogenet, Shizuoka, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanTanaka, Toshiaki论文数: 0 引用数: 0 h-index: 0机构: Tanaka Growth Clin, Tokyo, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanSuzumura, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Dokkyo Med Univ, Dept Pediat, Mibu, Tochigi, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanNinomiya, Shinsuke论文数: 0 引用数: 0 h-index: 0机构: Kurashiki Cent Hosp, Dept Clin Genet, Kurashiki, Okayama, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanKondo, Akane论文数: 0 引用数: 0 h-index: 0机构: Shikoku Med Ctr Children & Adults, Dept Gynecol, Zentsuji, Kagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanKaname, Tadashi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Child Hlth & Dev, Dept Genome Med, Tokyo, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanKosaki, Kenjiro论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Sch Med, Ctr Med Genet, Tokyo, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanMasuno, Mitsuo论文数: 0 引用数: 0 h-index: 0机构: Kawasaki Univ Med Welf, Grad Sch Hlth & Welf, Genet Counseling Program, Kurashiki, Okayama, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanKuroki, Yoshikazu论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, JapanKurosawa, Kenji论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan
- [5] Kabuki Syndrome: Identification of Two Novel Variants in KMT2Dand KDM6AMOLECULAR SYNDROMOLOGY, 2021, 12 (02) : 118 - 126Khodaeian, Mehrnoosh论文数: 0 引用数: 0 h-index: 0机构: DeNA Lab, Dept Med Genet, Tehran, Iran DeNA Lab, Dept Med Genet, Tehran, Iran论文数: 引用数: h-index:机构:Bitarafan, Fatemeh论文数: 0 引用数: 0 h-index: 0机构: DeNA Lab, Dept Med Genet, Tehran, Iran DeNA Lab, Dept Med Genet, Tehran, IranShafeii, Shohreh论文数: 0 引用数: 0 h-index: 0机构: Dr Shafeii Genet Counseling Ctr, Arak, Iran DeNA Lab, Dept Med Genet, Tehran, IranAlmadani, Navid论文数: 0 引用数: 0 h-index: 0机构: ACECR, Royan Inst Reprod Biomed, Dept Genet, Reprod Biomed Res Ctr, Tehran, Iran DeNA Lab, Dept Med Genet, Tehran, IranDaneshmand, Mohammad Ali论文数: 0 引用数: 0 h-index: 0机构: Daneshmand Pathol Lab, Arak, Iran DeNA Lab, Dept Med Genet, Tehran, Iran论文数: 引用数: h-index:机构:
- [6] Clinical features of Malaysians with Kabuki syndrome and identification of KMT2D and KDM6A mutations by exome sequencingEUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 345 - 345Leong, H. Y.论文数: 0 引用数: 0 h-index: 0机构: Hosp Kuala Lumpur, Kuala Lumpur, Malaysia Hosp Kuala Lumpur, Kuala Lumpur, MalaysiaHaniffa, M. A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Kuala Lumpur, Kuala Lumpur, Malaysia Hosp Kuala Lumpur, Kuala Lumpur, MalaysiaChan, M. Y.论文数: 0 引用数: 0 h-index: 0机构: Hosp Kuala Lumpur, Kuala Lumpur, Malaysia Hosp Kuala Lumpur, Kuala Lumpur, MalaysiaSivapatham, S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Kuala Lumpur, Kuala Lumpur, Malaysia Hosp Kuala Lumpur, Kuala Lumpur, MalaysiaChew, H. B.论文数: 0 引用数: 0 h-index: 0机构: Hosp Kuala Lumpur, Kuala Lumpur, Malaysia Hosp Kuala Lumpur, Kuala Lumpur, MalaysiaNgu, L. H.论文数: 0 引用数: 0 h-index: 0机构: Hosp Kuala Lumpur, Kuala Lumpur, Malaysia Hosp Kuala Lumpur, Kuala Lumpur, Malaysia
- [7] Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2HUMAN MUTATION, 2016, 37 (09) : 847 - 864Boegershausen, Nina论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, Germany Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, Germany论文数: 引用数: h-index:机构:Riehmer, Vera论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Human Genet, Cologne, Germany Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyKayserili, Huelya论文数: 0 引用数: 0 h-index: 0机构: KUSOM, Dept Med Genet, Istanbul, Turkey Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyBecker, Jutta论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Human Genet, Cologne, Germany Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyThoenes, Michaela论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Human Genet, Cologne, Germany Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanySimsek-Kiper, Pelin OEzlem论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Pediat, Fac Med, Pediat Genet Unit, Ankara, Turkey Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyBarat-Houari, Mouna论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Lab Rare & Autoinflammatory Dis, Montpellier, France INSERM, Montpellier, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyElcioglu, Nursel H.论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Pediat Genet, Fac Med, Istanbul, Turkey Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Duesseldorf, Inst Human Genet, Dusseldorf, Germany Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyTinschert, Sigrid论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Inst Clin Genet, Fac Med Carl Gustav Carus, Dresden, Germany Med Univ, Zentrum Humangenet, Innsbruck, Austria Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanySarrabay, Guillaume论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Lab Rare & Autoinflammatory Dis, Montpellier, France Univ Montpellier, Montpellier, France INSERM, Montpellier, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyFabre, Aurelie论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Lab Rare & Autoinflammatory Dis, Montpellier, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyBaynam, Gareth论文数: 0 引用数: 0 h-index: 0机构: Princess Margaret & King Edward Mem Hosp, Genet Serv Western Australia, Perth, WA, Australia Western Australian Register Dev Anomalies, Perth, WA, Australia Telethon Kids Inst, Perth, WA, Australia Univ Western Australia, Sch Paediat & Child Hlth, Perth, WA, Australia Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanySanchez, Elodie论文数: 0 引用数: 0 h-index: 0机构: INSERM, Montpellier, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyNuernberg, Gudrun论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Ctr Genom, Cologne, Germany Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyAltunoglu, Umut论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Dept Med Genet, Istanbul Fac Med, Istanbul, Turkey Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyCapri, Yline论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 07, Denis Diderot Med Sch, Dept Genet, APHP Robert DEBRE Univ Hosp, Paris, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ Hosp, Dept Genet, Nantes, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyLacombe, Didier论文数: 0 引用数: 0 h-index: 0机构: Bordeaux Univ, Dept Med Genet, CHU Bordeaux, INSERM,U1211, Bordeaux, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyCorsini, Carole论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Montpellier, France INSERM, Montpellier, France CHU Montpellier, Dept Med Genet, Reference Ctr Dev Abnormal, Montpellier, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyCormier-Daire, Valerie论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Inst Imagine, INSERM, U1163, Paris, France Hop Univ Necker Enfants Malad, AP HP, Serv Genet, Paris, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanySanlaville, Damien论文数: 0 引用数: 0 h-index: 0机构: UCBL1, GENDEV Team, CRNL, HCL Genet Dept,INSERM,U1028,CNRS,UMR 5292, Lyon, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyGiuliano, Fabienne论文数: 0 引用数: 0 h-index: 0机构: Archet II Hosp, Dept Med Genet, Nice, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyLe Quan Sang, Kim-Hanh论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Inst Imagine, INSERM, U1163, Paris, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyKayirangwa, Honorine论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Inst Imagine, INSERM, U1163, Paris, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyNuernberg, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Ctr Genom, Cologne, Germany Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyMeitinger, Thomas论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyBoduroglu, Koray论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Pediat, Fac Med, Pediat Genet Unit, Ankara, Turkey Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyZoll, Barbara论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, Germany Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyLyonnet, Stanislas论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Inst Imagine, INSERM, U1163, Paris, France Hop Univ Necker Enfants Malad, AP HP, Serv Genet, Paris, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, Germany论文数: 引用数: h-index:机构:Verloes, Alain论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 07, Denis Diderot Med Sch, Dept Genet, APHP Robert DEBRE Univ Hosp, Paris, France Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, Germany论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Netzer, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Human Genet, Cologne, Germany Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyLi, Yun论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, Germany Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, Germany论文数: 引用数: h-index:机构:Yigit, Goekhan论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, Germany Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, GermanyWollnik, Bernd论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, Germany Univ Med Ctr Goettingen, Inst Human Genet, Gottingen, Germany
- [8] SETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorderBIRTH DEFECTS RESEARCH, 2023, 115 (20): : 1885 - 1898Shpargel, Karl B.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USAQuickstad, Gabrielle A.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA
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