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291-300 trong số 897 kết quả
Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clo...
Tác giả: Sean Wen, Pablo Kuri-Morales, Ryan S Dhindsa, Sebastian Wasilewski, Jesus Alegre-Díaz, Jaime Berumen, Jonathan Emberson, Jason M Torres, Rory Collins, Keren Carss, Quanli Wang, Slavé Petrovski, Fengyuan Hu, Roberto Tapia-Conyer, Margarete A Fabre, Andrew R Harper, George S Vassiliou, Jonathan Mitchell, Abhishek Nag, Ioanna Tachmazidou, Sri V V Deevi, Haeyam Taiy, Katherine R Smith, Douglas P Loesch, Oliver S Burren
Xuất bản: United States: Nature genetics , 2025
Bộ sưu tập: NCBI
ddc:  025.523
 
Human CD33 deficiency is associated with mild alteration of circulating white blood cell counts
Tác giả: John Dominy, Jirong Bai, Muhammad Rehan Mian, Muhammad Bilal Liaqat, Syed Shahzaib Raza, Riffat Sultana, Anjum Jalal, Muhammad Hamid Saeed, Shahid Abbas, Fazal Rehman Memon, Mohammad Ishaq, Kashif Saleheen, Christopher Koch, Asif Rasheed, Allan Gurtan, Danish Saleheen, Maleeha Zaman Khan, Shareef Khalid, Jonathan H Chung, Madhura Panditrao, Lulu Liu, Qi Zhang, Muhammad Jahanzaib
Xuất bản: United States: PLoS genetics , 2025
Bộ sưu tập: NCBI
ddc:  785.13
 
Disparate X-linked retinoschisis phenotypes in fraternal twins with the same pathogenic variant in the
Tác giả: Peter Kiraly, Sian Sperring, Felix F Reichel, M Dominik Fischer
Xuất bản: England: Ophthalmic genetics , 2025
Bộ sưu tập: NCBI
ddc:  133.594
 
Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome
Tác giả: Barbara Leitao Braga, Debora Romeo Bertola, Ana Pinheiro Machado Canton, Laurana De Polli Cellin, Renata da Cunha Scalco, Mariana Ferreira de Assis Funari, Alexander Augusto de Lima Jorge, Vinicius de Souza, Bruna Lucheze Freire, Thais Kataoka Homma, Antônio Marcondes Lerario, Alexsandra Christianne Malaquias, Berenice Bilharinho Mendonca
Xuất bản: Denmark: Clinical genetics , 2025
Bộ sưu tập: NCBI
ddc:  355.021
 
Unique Genetic Profiles in Hypertrophic Cardiomyopathy Patients From São Miguel Island (Azores, Portugal)
Tác giả: Fabiana Duarte, Márcia Baixia, Carina Machado, Luísa Mota-Vieira, Luís Oliveira
Xuất bản: Denmark: Clinical genetics , 2025
Bộ sưu tập: NCBI
ddc:  304.663
 
A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII
Tác giả: Haiping Ning, Xiao Huang, Cuili Liang, Huifen Mei, Dongdong Tan, Jianqiang Tan, Xiaobao Wei, Dejian Yuan
Xuất bản: Denmark: Clinical genetics , 2025
Bộ sưu tập: NCBI
ddc:  343.09482
 
Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations
Tác giả: Reza Ghasemi, Kevin M Bowling, Yang Cao, Meagan M Corliss, Alexa M Dickson, Kilannin Krysiak, Julie A Neidich, Bijal A Parikh, Katarzyna Polonis, Molly C Schroeder, Jason Walker
Xuất bản: Denmark: Clinical genetics , 2025
Bộ sưu tập: NCBI
ddc:  633.15
 
Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families
Tác giả: Inam Ullah Khan, Abdullah, Wasim Ahmad, Sohail Ahmed, Amjad Ali, Mariam Anees, Awais Haider, Shabir Hussain, Fati Ullah Khan, Hammal Khan, Muhammad Sajid Khan, Romana Liaqat, Outi Makitie, Ayesha Sani, Asmat Ullah, Imran Ullah, Kifayat Ullah, Muhammad Tahir Ullah, Naseeb Ullah
Xuất bản: Denmark: Clinical genetics , 2025
Bộ sưu tập: NCBI
ddc:  304.663
 
Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort
Tác giả: Eduardo Da Cás, Débora Romeo Bertola, Edgard França Bisneto, Matheus Augusto Araújo Castro, José Ricardo Magliocco Ceroni, Joao Bosco Oliveira Filho, Alexander Augusto de Lima Jorge, Chong Ae Kim, Ana Cristina Vitorino Krepischi, Guilherme Lopes Yamamoto
Xuất bản: Denmark: Clinical genetics , 2025
Bộ sưu tập: NCBI
ddc:  391.41
 
Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohor...
Tác giả: Ayberk Turkyilmaz, Akif Ayaz, Ali Cansu, Alper Han Cebi, Tulay Kamasak, Pinar Ozkan Kart, Safiye Gunes Sager, Kerem Terali
Xuất bản: Denmark: Clinical genetics , 2025
Bộ sưu tập: NCBI
ddc:  496.3374
 

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