Results 191 to 200 of about 184,621 (397)

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

Genetics in Medicine, 2019
Jiaqi Liu, N. Wu, Nan Yang, K. Takeda, Weisheng Chen, Weiyu Li, Renqian Du, Sen Liu, Yangzhong Zhou, Ling Zhang, Zhenlei Liu, Yuzhi Zuo, Sen Zhao, R. Blank, D. Pehlivan, Shuangshuang Dong, Jianguo Zhang, Jianxiong Shen, Nuo Si, Yi‐peng Wang, Gang Liu, Shugang Li, Yanxue Zhao, Hong Zhao, Yi-Xin Chen, Yu Zhao, Xiaofei Song, Jianhua Hu, Mao Lin, Ye Tian, Bo Yuan, K. Yu, Y. Niu, Bin Yu, Xiaoxin Li, Jia Chen, Zihui Yan, Qian-kun Zhu, Xiaolu Meng, Xiaoli Chen, Jianzhong Su, Xiuli Zhao, Xiaoyue Wang, Y. Ming, Xiao Li, C. Raggio, Baozhong Zhang, X. Weng, Shuyang Zhang, Xue Zhang, Kota Watanabe, M. Matsumoto, Li Jin, Yiping Shen, Nara Sobreira, J. Posey, P. Giampietro, D. Valle, Pengfei Liu, Zhihong Wu, S. Ikegawa, J. Lupski, Feng Zhang, G. Qiu, D. D. D. Study, Japan Early Onset Scoliosis Research Group, Baylor-Hopkins Center for Mendelian Genomics   +66 more
semanticscholar   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source

What\u27s new in spine surgery [PDF]

, 2005
Anderson, Paul A., Boden, Scott D., Bridwell, Keith H., Vaccaro, Alexander R., Wang, Jeffrey C.   +4 more
core   +7 more sources

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

The Association of IL‐17RC Polymorphisms rs708567 and rs76999397 With Acute Lymphoblastic Leukaemia

International Journal of Immunogenetics, EarlyView.
ABSTRACT Background: Acute lymphoblastic leukaemia (ALL) is characterized by the clonal proliferation of immature lymphoid precursors in the bone marrow or peripheral blood. This study investigates whether genetic polymorphisms in IL‐17RC are associated with an increased risk of ALL in the Saudi population.
Ali Aljuaimlani, Lamjed Mansour, Jameel Al‐Tamimi, Jamilah Alshammari, Safa A. Alqarzae, Fadwa M. Alkhulaifi, Suliman Alomar   +6 more
wiley   +1 more source

National Survey on Essential Communication Skills to Address Language Demands in Canadian Nursing Practice

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aims To identify key communication skills for Canadian nursing practice. Design Quantitative research using a nationwide survey. Methods Exploratory confirmatory factor analysis was used to identify factors underlying key communication skills required for nursing practice.
Eunice Eunhee Jang, Maryam Wagner, Jeanne Sinclair   +2 more
wiley   +1 more source

Risk factors for scoliosis progression in children with idiopathic short stature on growth hormone therapy. [PDF]

J Orthop Surg Res
Zhang X, Ouyang H, Han X, Yao H, Zhou Y, Liu X.   +5 more
europepmc   +1 more source

On the congenital spinal scoliosis, along with aresearch on the noto-chord in the human foetus

, 1951
Shuhei Yoshimi
openalex   +2 more sources

Pejerrey (Odontesthes bonariensis) Under Siege: Main Infectious Diseases and Their Role in Aquaculture and Wild Populations Amidst Environmental Change

Journal of Fish Diseases, Volume 48, Issue 4, April 2025.
ABSTRACT The pejerrey (Odontesthes bonariensis) is a key species for recreational and commercial fisheries in Argentina and holds significant aquaculture potential. It has been introduced to various countries worldwide, including Japan, where intensive aquaculture has developed.
Aarón Torres‐Martínez, Miguel Mancini, Fabian Grosman, Gustavo Manuel Somoza, Carlos Augusto Strüssmann   +4 more
wiley   +1 more source

Imaging study of pelvic morphology in adolescent idiopathic scoliosis: a retrospective study. [PDF]

J Orthop Surg Res
Shen Y, Qin F, Hapulile NT, Pan Y, Ying X.   +4 more
europepmc   +1 more source