Results 81 to 90 of about 15,235 (121)

Exome sequencing uncovers promising candidate genes for foetal structural malformations. [PDF]

Indian J Med Res
Sudhakar DV, Joseph S, Bansal V, Gangurde A, Nitin Minde N, Gawde H, Pande SS.   +6 more
europepmc   +1 more source

Severe obesity as an oligogenic condition: evidence from 1714 adults seeking treatment in the UK National Health Service. [PDF]

Hum Genomics
Almansoori S, Amin HA, Alsters SI, Handley D, Yiorkas AM, Hashim NAN, Ramzi NH, Bonanomi G, Small P, Purkayastha S, van Haelst M, Walters RG, le Roux CW, Chahal HS, Drenos F, Blakemore AI.   +15 more
europepmc   +1 more source

Contribution of Genetics to Parkinson's Disease and Future Prospects. [PDF]

Juntendo Med J
Funayama M.
europepmc   +1 more source

Inherited Lipodystrophy Associated With POLD1 and CAVIN1 Mutations: Two Cases From the Indian Subcontinent. [PDF]

Cureus
Sreekumar S, Sridhar S, Sreenivasan P, Palanivel S, Chidambara Manivasagam VS, Shanmugam D.   +5 more
europepmc   +1 more source

Exploration of the mechanism of Tongmai Jiangzhuo Decoction in treating atherosclerosis based on network pharmacology and experimental validation. [PDF]

Am J Transl Res
Xu Y, Shi H, Ma C, Zhao Y, Niu Z, Gao X, Zhang Y, Li X, Luan Y, Xia J, Wang G.   +10 more
europepmc   +1 more source

Recurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsy. [PDF]

Epilepsia
Kegele J, Juenger H, Frantzmann H, Gläser D, Sturm M, Lerche H, Haack TB, Bader I.   +7 more
europepmc   +1 more source

Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in the <i>SPTB</i> gene that causes hereditary spherocytosis with hemolytic anemia. [PDF]

Front Genet
Cao K, Luo X, Liu L, Mao X, Liu R, Chen Y, Banerjee S.   +6 more
europepmc   +1 more source

Coexistence of congenital lacrimal gland agenesis and congenital aniridia: Case report. [PDF]

Am J Ophthalmol Case Rep
Alzaben KA, Alshuhayb BS, Alsulaiman SM, Alenazi M, Alkhayyal MA.   +4 more
europepmc   +1 more source

Integrated network pharmacology and molecular docking reveal multi-target hepatotoxic mechanisms of Xanthii fructus. [PDF]

Medicine (Baltimore)
Fu X, Xiong F, Lin X, Lin Z, Jiang X.
europepmc   +1 more source

Heritable pulmonary arterial hypertension: new genetic findings and environmental triggers. [PDF]

Sci Rep
Shaukat M, Grünig E, Haas S, Haas J, Panahi M, Granzow M, Lange TJ, Stadler S, Sommer N, Dorfmüller P, Meder B, Harutyunova S, Egenlauf B, Xanthouli P, Hinderhofer K, Eichstaedt CA.   +15 more
europepmc   +1 more source