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- [21] A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc diseaseHUMAN GENOME VARIATION, 2020, 7 (01)Uchida, Noboru论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Dept Pediat, Sch Med, Shinjuku Ku, 35 Shinanomachi, Tokyo, Japan Keio Univ, Dept Pediat, Sch Med, Shinjuku Ku, 35 Shinanomachi, Tokyo, JapanShibata, Hironori论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Dept Pediat, Sch Med, Shinjuku Ku, 35 Shinanomachi, Tokyo, Japan Keio Univ, Dept Pediat, Sch Med, Shinjuku Ku, 35 Shinanomachi, Tokyo, JapanNishimura, Gen论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ Hosp, Ctr Intractable Dis, 38 Morohongo, Moroyama, Saitama, Japan Keio Univ, Dept Pediat, Sch Med, Shinjuku Ku, 35 Shinanomachi, Tokyo, JapanHasegawa, Tomonobu论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Dept Pediat, Sch Med, Shinjuku Ku, 35 Shinanomachi, Tokyo, Japan Keio Univ, Dept Pediat, Sch Med, Shinjuku Ku, 35 Shinanomachi, Tokyo, Japan
- [22] Copy number variants in patients with short statureEuropean Journal of Human Genetics, 2014, 22 : 602 - 609Hermine A van Duyvenvoorde论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsJulian C Lui论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsSarina G Kant论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsWilma Oostdijk论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsAntoinet CJ Gijsbers论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsMariëtte JV Hoffer论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsMarcel Karperien论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsMarie JE Walenkamp论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsCees Noordam论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsPaul G Voorhoeve论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsVerónica Mericq论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsAlberto M Pereira论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsHedi L Claahsen-van de Grinten论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsSandy A van Gool论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsMartijn H Breuning论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsMonique Losekoot论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsJeffrey Baron论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsClaudia AL Ruivenkamp论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of PediatricsJan M Wit论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of Pediatrics
- [23] Copy number variants in patients with short statureEUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (05) : 602 - 609van Duyvenvoorde, Hermine A.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Endocrinol & Metab Dis, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsLui, Julian C.论文数: 0 引用数: 0 h-index: 0机构: Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Growth & Dev, Bethesda, MD USA Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsKant, Sarina G.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, Netherlands论文数: 引用数: h-index:机构:Gijsbers, Antoinet C. J.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsHoffer, Mariette J. V.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsKarperien, Marcel论文数: 0 引用数: 0 h-index: 0机构: Univ Twente, MIRA Inst Biomed Technol & Tech Med, Dept Dev BioEngn, NL-7500 AE Enschede, Netherlands Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsWalenkamp, Marie J. E.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam Med Ctr, Dept Pediat, Amsterdam, Netherlands Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsNoordam, Cees论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat, NL-6525 ED Nijmegen, Netherlands Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsVoorhoeve, Paul G.论文数: 0 引用数: 0 h-index: 0机构: Canisius Wilhelmina Hosp, Dept Pediat, Nijmegen, Netherlands Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsMericq, Veronica论文数: 0 引用数: 0 h-index: 0机构: Univ Chile, Inst Maternal & Child Dis, Santiago, Chile Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsPereira, Alberto M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Endocrinol & Metab Dis, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsClaahsen-van de Grinten, Hedi L.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat, NL-6525 ED Nijmegen, Netherlands Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, Netherlandsvan Gool, Sandy A.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsBreuning, Martijn H.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, Netherlands论文数: 引用数: h-index:机构:Baron, Jeffrey论文数: 0 引用数: 0 h-index: 0机构: Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Growth & Dev, Bethesda, MD USA Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsRuivenkamp, Claudia A. L.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsWit, Jan M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, Netherlands Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, Netherlands
- [24] Clinical analysis of short statureJOURNAL OF PEDIATRIC ORTHOPAEDICS, 2002, 22 (05) : 690 - 696Goldberg, MJ论文数: 0 引用数: 0 h-index: 0机构: Tufts Univ, Floating Hosp Children, New England Med Ctr, Div Pediat Orthopaed, Boston, MA 02111 USA Tufts Univ, Floating Hosp Children, New England Med Ctr, Div Pediat Orthopaed, Boston, MA 02111 USAYassir, W论文数: 0 引用数: 0 h-index: 0机构: Tufts Univ, Floating Hosp Children, New England Med Ctr, Div Pediat Orthopaed, Boston, MA 02111 USA Tufts Univ, Floating Hosp Children, New England Med Ctr, Div Pediat Orthopaed, Boston, MA 02111 USASadeghi-Nejad, A论文数: 0 引用数: 0 h-index: 0机构: Tufts Univ, Floating Hosp Children, New England Med Ctr, Div Pediat Orthopaed, Boston, MA 02111 USA Tufts Univ, Floating Hosp Children, New England Med Ctr, Div Pediat Orthopaed, Boston, MA 02111 USA
- [25] Case report: A novel heterozygous frameshift mutation of ACAN in a Chinese family with short stature and advanced bone ageFRONTIERS IN GENETICS, 2023, 14Huang, Hao论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Nephrol, Changsha, Peoples R China Cent South Univ, Hunan Key Lab Organ Fibrosis, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Nephrol, Changsha, Peoples R ChinaJin, Jieyuan论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Orthoped, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Nephrol, Changsha, Peoples R ChinaXiang, Rong论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Hunan Key Lab Organ Fibrosis, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Nephrol, Changsha, Peoples R ChinaWang, Xia论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Nephrol, Changsha, Peoples R China
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