Results 81 to 90 of about 14,255 (146)

Genotype-Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights. [PDF]

Clin Exp Ophthalmol
Liskova P, Skalicka P, Dudakova L, Vincent AL.   +3 more
europepmc   +1 more source

A Rare Case of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutation on Exon 8 in a Patient Presenting With Recurrent Infections and Failure to Thrive. [PDF]

Cureus
Malwade S, Shaligram R, Garud BP, Mane S.   +3 more
europepmc   +1 more source

Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing. [PDF]

PLoS One
Hadjipanteli A, Theodosiou A, Papaevripidou I, Alexandrou A, Salameh N, Evangelidou P, Tomazou M, Mavrides A, Fasouliotis S, Anastasiou G, Stavroulis A, Agathokleous N, Agathokleous M, Tsangarides S, Kallikas I, Kakoullis K, Frakala S, Oxinou C, Marnerides A, Athanasiou E, Ourani S, Anastasiadou VC, Tanteles G, Kousoulidou L, Sismani C.   +24 more
europepmc   +1 more source

Integrating network pharmacology and bioinformatics to explore the mechanism of Xiaojian Zhongtang in treating major depressive disorder: An observational study. [PDF]

Medicine (Baltimore)
Jiang H, Zhang J, Li Q, Zhou Y.
europepmc   +1 more source

A simplified retriever to improve accuracy of phenotype normalizations by large language models. [PDF]

Front Digit Health
Hier DB, Do TS, Obafemi-Ajayi T.
europepmc   +1 more source

Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants. [PDF]

Eur J Pediatr
Elbagoury NM, Ashaat EA, Mekkawy MK, Mohamed RY, Askoura AM, Milad PM, Essawi ML.   +6 more
europepmc   +1 more source

Recurrent Hospitalisation in a Child With Hypopigmented Hair: Inborn Errors of Immunity Emerge. [PDF]

Cureus
Kundavaram R, Kadiri H, Khurana U, Chaudhary NK, Dhingra B, Bargir U, Malik S.   +6 more
europepmc   +1 more source

The First Case Report of a Homozygous Consensus Acceptor Splice Variant in the NUP214 Gene Associated With Fetal Hydrops and Arthrogryposis Multiplex. [PDF]

Cureus
Tamhankar V, Patel SJ, Kachhadiya T, Vaniawala S, Patel J, Bhammar R, Patel S, Vaniawala S, Menon P, Tamhankar PM.   +9 more
europepmc   +1 more source

Syndromic Retinitis Pigmentosa: A Narrative Review. [PDF]

Vision (Basel)
Janáky M, Braunitzer G.
europepmc   +1 more source

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons. [PDF]

Mol Genet Genomic Med
Taniguchi K, Hasegawa F, Okazaki Y, Hori A, Ogata-Kawata H, Aoto S, Migita O, Kawai T, Nakabayashi K, Okamura K, Fukui K, Wada S, Ozawa K, Ito Y, Sago H, Hata K.   +15 more
europepmc   +1 more source