Results 71 to 80 of about 563,023 (137)

Recurrent psychiatric manifestations in thiamine‐responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2 [PDF]

Psychiatry and Clinical Neurosciences, 2014
Molly C. Wood, John A. Tsiouris, Milen Velinov   +2 more
openaire   +1 more source

An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment. [PDF]

Ital J Pediatr, 2023
Di Candia F, Di Iorio V, Tinto N, Bonfanti R, Iovino C, Rosanio FM, Fedi L, Iafusco F, Arrigoni F, Malesci R, Simonelli F, Rigamonti A, Franzese A, Mozzillo E.   +13 more
europepmc   +1 more source

Early thiamine therapy in Rogers syndrome: Systematic review of hematologic, auditory and glycemic outcomes. [PDF]

Bioinformation
Upadhyay Z, Sudani S, Jain A.
europepmc   +1 more source

A New Gain-of-Function NLRP1 Variant Is Associated with Inflammasome Activation and Disease Severity in SLC25A38 Congenital Sideroblastic Anemia Case Report. [PDF]

J Pers Med
Sánchez-Villalobos M, Baños EC, Martínez-Balsalobre E, Pinilla-Marquínez M, Navarro-Ramírez V, Macartney T, Hurtado-Navarro L, Hernández-García D, Blanquer M, Pelegrín P, Salido-Fierrez E, Pérez-Oliva AB.   +11 more
europepmc   +1 more source

The Genetic Landscape and Precision Medicine in Neonatal Diabetes Mellitus: From Molecular Mechanisms to Clinical Management. [PDF]

Curr Issues Mol Biol
Meng Y, Zhu L, Dong G, Tang C.
europepmc   +1 more source

Fluorodeoxyglucose Metabolic Phenotypes Across Molecular Subgroups of Primary Colorectal Cancer: A Retrospective Three-Group Analysis. [PDF]

J Clin Med
Morita R, Norikane T, Yamamoto Y, Manabe Y, Murao M, Obata T, Mitamura K, Okuyama H, Nishiyama Y.   +8 more
europepmc   +1 more source

Das Intelligente Genom über die Entstehung des menschlichen Geistes durch Mutation und Selektion

, 1999
The Intelligent Genome: On the Formation of Human Intelligence via Mutation and Selection, by A.
Wendt, Dirk
core  

The genomic origins and evolutionary path to a key innovation in the world's most venomous snakes. [PDF]

Proc Natl Acad Sci U S A
van Thiel J, Dowell NL, Smith CF, Sanchez EE, Carroll SB.   +4 more
europepmc   +1 more source

Large Colonic Perineurioma Presenting During Evaluation of Chronic Abdominal Pain and Constipation. [PDF]

ACG Case Rep J
Bojja S, Bebawy M, Kandhi S, Shaikh D, Al-Khazraji A, Patel HK.   +5 more
europepmc   +1 more source

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population. [PDF]

Mol Diagn Ther
Shadab M, Ben-Mahmoud A, Martínez Völter LN, Abbasi AA, Ku B, Ejaz A, Latif Z, Gupta V, Owrang D, Jang MH, Zhang Z, Mohammad R, Houlden H, Kim HG, Vona B.   +14 more
europepmc   +1 more source