日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

COL6A1基因新变异导致近亲结婚家族中出现乌尔里希先天性肌营养不良症:病例报告

Sirisena, Nirmala Dushyanthi; Samaranayake, U M Jayami Eshana; Neto, Osorio Lopes Abath; Foley, A Reghan; Pathirana, B A P Sajeewani; Neththikumara, Nilaksha; Paththinige, C Sampath; Rathnayake, Pyara; Donkervoort, Sandra; Bönnemann, Carsten G; Dissanayake, Vajira H W

Turner syndrome in diverse populations

不同人群中的特纳综合征

Kruszka, Paul; Addissie, Yonit A; Tekendo-Ngongang, Cedrik; Jones, Kelly L; Savage, Sarah K; Gupta, Neerja; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Aravena, Teresa; Nampoothiri, Sheela; Yesodharan, Dhanya; Girisha, Katta M; Patil, Siddaramappa Jagdish; Jamuar, Saumya Shekhar; Goh, Jasmine Chew-Yin; Utari, Agustini; Sihombing, Nydia; Mishra, Rupesh; Chitrakar, Neer Shoba; Iriele, Brenda C; Lulseged, Ezana; Megarbane, Andre; Uwineza, Annette; Oyenusi, Elizabeth Eberechi; Olopade, Oluwarotimi Bolaji; Fasanmade, Olufemi Adetola; Duenas-Roque, Milagros M; Thong, Meow-Keong; Tung, Joanna Y L; Mok, Gary T K; Fleischer, Nicole; Rwegerera, Godfrey M; de Herreros, María Beatriz; Watts, Johnathan; Fieggen, Karen; Huckstadt, Victoria; Moresco, Angélica; Obregon, María Gabriela; Hussen, Dalia Farouk; Ashaat, Neveen A; Ashaat, Engy A; Chung, Brian H Y; Badoe, Eben; Faradz, Sultana M H; El Ruby, Mona O; Shotelersuk, Vorasuk; Wonkam, Ambroise; Ekure, Ekanem Nsikak; Phadke, Shubha R; Richieri-Costa, Antonio; Muenke, Maximilian

The Clinical Efficacy and Safety of Autologous Activated Platelet-Rich Plasma Injection in Androgenetic Alopecia

自体活化富血小板血浆注射治疗雄激素性脱发的临床疗效和安全性

Paththinige, Niluka Dilrukshi; Akarawita, Janaka K W; Jeganathan, Geetha

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans

斯里兰卡人群中染色体易位的频率和谱系

Paththinige, Chamara S; Sirisena, Nirmala D; Kariyawasam, U G I U; Dissanayake, Vajira H W

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

BHLHA9基因重复导致长骨发育不全的裂手/裂足畸形:病例报告及文献复习

Paththinige, Chamara Sampath; Sirisena, Nirmala Dushyanthi; Escande, Fabienne; Manouvrier, Sylvie; Petit, Florence; Dissanayake, Vajira Harshadeva Weerabaddana

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report

斯里兰卡家族性高胆固醇血症患者队列中低密度脂蛋白受体(LDLR)突变谱——初步报告

Paththinige, C S; Rajapakse, J R D K; Constantine, G R; Sem, K P; Singaraja, R R; Jayasekara, R W; Dissanayake, V H W

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

一例因母系遗传的平衡易位导致7q22.1→qter部分三体综合征而伴有多发性先天性异常的儿童:病例报告及文献综述

Paththinige, C S; Sirisena, N D; Kariyawasam, U G I U; Ediriweera, R C; Kruszka, P; Muenke, M; Dissanayake, V H W

Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature

母系遗传的平衡易位46,XX,t(15;16)(p13;q21)不平衡分离导致的16q21➔qter部分三体综合征:病例报告及文献综述

Mishra, R; Paththinige, C S; Sirisena, N D; Nanayakkara, S; Kariyawasam, U G I U; Dissanayake, V H W

Williams-Beuren syndrome in diverse populations

不同人群中的威廉姆斯-博伊伦综合征

Kruszka, Paul; Porras, Antonio R; de Souza, Deise Helena; Moresco, Angélica; Huckstadt, Victoria; Gill, Ashleigh D; Boyle, Alec P; Hu, Tommy; Addissie, Yonit A; Mok, Gary T K; Tekendo-Ngongang, Cedrik; Fieggen, Karen; Prijoles, Eloise J; Tanpaiboon, Pranoot; Honey, Engela; Luk, Ho-Ming; Lo, Ivan F M; Thong, Meow-Keong; Muthukumarasamy, Premala; Jones, Kelly L; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Bouguenouch, Laila; Shukla, Anju; Girisha, Katta M; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Mishra, Rupesh; Kisling, Monisha S; Ferreira, Carlos R; de Herreros, María Beatriz; Lee, Ni-Chung; Jamuar, Saumya S; Lai, Angeline; Tan, Ee Shien; Ying Lim, Jiin; Wen-Min, Cham Breana; Gupta, Neerja; Lotz-Esquivel, Stephanie; Badilla-Porras, Ramsés; Hussen, Dalia Farouk; El Ruby, Mona O; Ashaat, Engy A; Patil, Siddaramappa J; Dowsett, Leah; Eaton, Alison; Innes, A Micheil; Shotelersuk, Vorasuk; Badoe, Ëben; Wonkam, Ambroise; Obregon, María Gabriela; Chung, Brian H Y; Trubnykova, Milana; La Serna, Jorge; Gallardo Jugo, Bertha Elena; Chávez Pastor, Miguel; Abarca Barriga, Hugo Hernán; Megarbane, Andre; Kozel, Beth A; van Haelst, Mieke M; Stevenson, Roger E; Summar, Marshall; Adeyemo, A Adebowale; Morris, Colleen A; Moretti-Ferreira, Danilo; Linguraru, Marius George; Muenke, Maximilian

Noonan syndrome in diverse populations

不同人群中的努南综合征

Kruszka, Paul; Porras, Antonio R; Addissie, Yonit A; Moresco, Angélica; Medrano, Sofia; Mok, Gary T K; Leung, Gordon K C; Tekendo-Ngongang, Cedrik; Uwineza, Annette; Thong, Meow-Keong; Muthukumarasamy, Premala; Honey, Engela; Ekure, Ekanem N; Sokunbi, Ogochukwu J; Kalu, Nnenna; Jones, Kelly L; Kaplan, Julie D; Abdul-Rahman, Omar A; Vincent, Lisa M; Love, Amber; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Shukla, Anju; Girisha, Katta M; Patil, Siddaramappa J; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Mishra, Rupesh; Klein-Zighelboim, Eva; Gallardo Jugo, Bertha E; Chávez Pastor, Miguel; Abarca-Barriga, Hugo H; Skinner, Steven A; Prijoles, Eloise J; Badoe, Eben; Gill, Ashleigh D; Shotelersuk, Vorasuk; Smpokou, Patroula; Kisling, Monisha S; Ferreira, Carlos R; Mutesa, Leon; Megarbane, Andre; Kline, Antonie D; Kimball, Amy; Okello, Emmy; Lwabi, Peter; Aliku, Twalib; Tenywa, Emmanuel; Boonchooduang, Nonglak; Tanpaiboon, Pranoot; Richieri-Costa, Antonio; Wonkam, Ambroise; Chung, Brian H Y; Stevenson, Roger E; Summar, Marshall; Mandal, Kausik; Phadke, Shubha R; Obregon, María G; Linguraru, Marius G; Muenke, Maximilian