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631-640 trong số 897 kết quả
SGLT2 inhibitors for periodontitis in glycogen storage disease
Tác giả: M Langeveld, B M Balfoort, S B Wortmann
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc:  553.453
 
Breakthroughs and makeovers in medically assisted reproduction: the precarious proposition availed by translational rese...
Tác giả: David F Albertini
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc:  363.34929
 
The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative diso...
Tác giả: Enza Ferrero, Alfredo Brusco, David Cheillan, Cecilia Marelli, Frédéric M Vaz
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc:  230.044
 
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
Tác giả: Francesco Gavazzi, Laura A Adang, Geneviève Bernard, Enrico Bertini, Joshua L Bonkowsky, Teodora Chamova, Brittany Charsar, Nancy J Clegg, Daniel Rocha de Carvalho, Mauricio R Delgado, Hiroshi Doi, Jacqueline A Erler, Angeles Garcia-Cazorla, Eline Hamilton, Guy Helman, Henry Houlden, Albena Jordanova, Naomichi Matsumoto, Kelsee Meyerhoffer, Amytice Mirchi, Kayla Muirhead, Francesco Nicita, Virali Patel, Amy Pizzino, Meredith Sanchez-Castillo, Miyatake Satoko, Johanna Schmidt, Anjana Sevagamoorthy, Justine Shults, Cas Simons, Menno Stellingwerff, Asako Takanohashi, Michelle Teng, Davide Tonduti, Ivailo Tournev, Helia Toutounchi, Marjo S van der Knaap, Adeline L Vanderver, Jingming Wang, Evangeline Wassmer, Dan Williams, Sarah Woidill, Nicole I Wolf
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc:  333.8232
 
Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges
Tác giả: Anke Schumann, Skadi Beblo, Sven F Garbade, Matthias Gautschi, Sarah C Grünert, Dorothea Haas, Michel Hochuli, Georg Hoffmann, Petra May, Martin Merkel, Sabine Scholl-Bürgi, Eva Thimm, Natalie Weinhold, Monika Williams, Saskia Wortmann
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc:  070.48346
 
Non-juvenile familial form of life-threatening arrhythmias caused by the Ryanodine Receptor type 2 c.13823 G>A, p.(Ar...
Tác giả: Sok-Sithikun Bun, Emile Ferrari, Florence Kyndt, Céline Leccia, Cécile Rouzier, Didier Scarlatti, Fabien Squara
Xuất bản: Netherlands: Forensic science international. Genetics , 2025
Bộ sưu tập: NCBI
ddc:  004.9
 
SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
Tác giả: Aummarin Chaloemthanetphong, Vichaya Auvichayapat, Saknan Bongsebandhu-Phubhakdi, Kiattawee Choowongkomon, Ashfaque Ahmed Kanhar, Irin Lertparinyaphorn, Napapat Natthasumon, Hasnee Noh, Tikumphorn Sathirapatya, Poonyapat Sukawutthiya, Nattachai Thangsiriskul, Pagparpat Varrathyarom, Kornkiat Vongpaisarnsin, Wikanda Worrapitirungsi
Xuất bản: Netherlands: Forensic science international. Genetics , 2025
Bộ sưu tập: NCBI
ddc:  617.523
 
A link between baseline neurofilament light chain and primary substrate accumulation in cerebrospinal fluid, and clinica...
Tác giả: Christian Argueta, Mariam Ahmed, Oeystein Roed Brekk, Qihua Feng, Scott R P McDonnell, Luying Pan, Tatiana Plavina, Scarlett Wang, David A H Whiteman
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc:  296.4612
 
Exploring the use of the National Institutes of Health Toolbox Cognition Battery with children and adolescents with Pomp...
Tác giả: Gail A Spiridigliozzi, Seung-Hye Jung, Priya S Kishnani, Neha Regmi, Mihaela Stefanescu, Kanecia Zimmerman
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc:  614.409
 
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United St...
Tác giả: Eric T Rush, Toby Bates, Allison Cox, Guillermo Del Angel, Juan Dong, Robert D Steiner
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc:  523.88
 

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