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Tìm được 19 kết quả
Self-Reported Access to Specialized Genetics Providers Among Families of Young Children With Birth Defects in Texas
Tác giả: Dayana Betancourt, Charles Shumate, Caitlyn Yantz, Henal Gandhi, Margaret Drummond-Borg, Christina Kubenka, Claire Singletary, Daniel Riconda, A J Agopian
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  004.678
 
Research Priorities of Individuals and Families With Sex Chromosome Aneuploidies
Tác giả: Alexandra Carl, Samantha Bothwell, Shanlee Davis, Fathia Farah, Karli Swenson, David Hong, Siddharth Prakash, John Strang, Nicole Tartaglia, Armin Raznahan, Judith Ross
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  291.1785
 
Survey of Patients With Sanfilippo Type a (MPS IIIA) Disease Diagnosed by the MPS Brazil Network
Tác giả: Yorran Hardman Araújo Montenegro, Franciele Barbosa Trapp, Simone Silva Dos Santos-Lopes, Karyme Beatrice Lourenço da Silva, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  370.119
 
Clinical and Molecular Genetic Analyses of a Girl With Isolated Nephrogenic Diabetes Insipidus due to Contiguous Gene De...
Tác giả: Shoma Saito, Shigeru Suzuki, Yo Niida, Satoru Takahashi, Kengo Izumi, Takumi Kamiyama, Kosuke Saito, Hinako Yamamura, Takahide Kokumai, Akiko Furuya, Genya Taketazu, Yoshio Makita
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  296.438
 
Natural History of NAA15-Related Neurodevelopmental Disorder Through Adolescence
Tác giả: Rikhil Makwana, Carolina Christ, Rahi Patel, Elaine Marchi, Randie Harpell, Gholson J Lyon
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  332.153
 
Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connecti...
Tác giả: Olivia Abegglen, Shajanth Srikantharupan, Kathrin Zotter, Giulio Marcionelli, Timothée Ndarugendamwo, Pei Jin Lim, Cecilia Giunta, Christina Kaufman, Marianne Rohrbach
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  571.445
 
Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phe...
Tác giả: Sophie van Rijn, Kimberly Kuiper, Hanna Swaab
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  241.5
 
International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study
Tác giả: Jessica Duis, Laura Agresta, Michael Shreve, Kabelo Thusang, Darcy Weidemann, Rebecca Beale, Aditi Mehta, Andrew Wilhelmsen, Nuala Summerfield, William E Bennett, Henry Chambers, Antonia Clarke, Charlie Fairhurst, Julie Hoover-Fong, Feilim Murphy, Garey Noritz, Scott Schwantes
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  020.601
 
Dr. Peter Emil Becker and the Third Reich: Correspondence
Tác giả: Tilman Becker
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  155.445
 
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia
Tác giả: M Makenzie Beaman, Andrew S Allen, Alejandro Barrera, Shannon Clarke, Gregory E Crawford, Hong Dang, Thomas W Ferkol, Erin Huggins, Apoorva K Iyengar, Seung-Hye Jung, Brendan Kearney, Adam J Kimple, Michael R Knowles, Margaret W Leigh, William H Majoros, Erica Nading, Kenneth N Olivier, Lawrence E Ostrowski, Timothy E Reddy, Catherine W Rehder, Patrick R Sears, Amanda J Smith, Weining Yin, Maimoona A Zariwala, Xue Zou
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  133.5266
 
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