Results 361 to 370 of about 9,771,651 (424)

The Second Decade of Neurology® Genetics Beckons. [PDF]

Neurol Genet
Kang PB.
europepmc   +1 more source

Possible role of human ribonuclease dicer in the regulation of R loops

FEBS Open Bio, EarlyView.
R loops play an important role in regulating key cellular processes such as replication, transcription, centromere stabilization, or control of telomere length. However, the unscheduled accumulation of R loops can cause many diseases, including cancer, and neurodegenerative or inflammatory disorders. Interestingly, accumulating data indicate a possible
Klaudia Wojcik, Paulina Krzeminska, Anna Kurzynska‐Kokorniak   +2 more
wiley   +1 more source

The recurrent p.Glu3Lys variant in <i>EHHADH</i> is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities. [PDF]

Mol Genet Metab Rep
Rollier P, Cospain A, Barth M, Milon V, Gueguen N, Homedan C, Desquiret V, Bris C, Colin E, Damaj L, Ryckewaert A, Reynier P, Odent S, Amati-Bonneau P, Procaccio V, Bonneau D, Ziegler A.   +16 more
europepmc   +1 more source

Editorial: Mendelian randomization: an approach for precision medicine and public health. [PDF]

Front Genet
Pan X.
europepmc   +1 more source

Artificial intelligence in clinical genetics. [PDF]

Eur J Hum Genet
Duong D, Solomon BD.
europepmc   +1 more source

Genetic counselling for psychiatric conditions: exploring current perceptions of family physicians and psychiatrists in Portugal. [PDF]

J Community Genet
Ribeiro B, Homem de Melo I, Sequeira A, Moldovan R, Paneque M.   +4 more
europepmc   +1 more source

Cancer and Overgrowth Manifestations of PTEN Hamartoma Tumor Syndrome: Management Recommendations from the International PHTS Consensus Guidelines Working Group. [PDF]

Clin Cancer Res
Dhawan A, Baitamouni S, Liu D, Yehia L, Anthony K, McCarther A, Tischkowitz M, MacFarland SP, Ngeow J, Hoogerbrugge N, Eng C.   +10 more
europepmc   +1 more source

Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.

Fasham J, Pandit R, Higgins AT, Kim D, Austin-Muttitt K, Derrick AV, Gunn R, Matty M, Ragge N, Chandler KE, Jones GE, Suri M, Kraus A, Dabir T, Stone K, Jones WD, Rankin J, Poulter JA, Elpidorou M, Sheridan E, Johnson CA, Firth HV, Banka S, Newbury-Ecob R, Ghali N, Green AJ, Joss S, Mansour S, Vasudevan P, Parker MJ, Mullins JG, Thomas AG, Chung S, Dixit A.   +33 more
europepmc   +1 more source

Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germlineFHvariants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer

Allen S, Rowlands CF, Butler S, Durkie M, Horton C, Pesaran T, Richardson M, Robinson R, Garrett A, Burghel GJ, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Snape K, Andreaou A, Maher ER, Hanson H, McVeigh T, Turnbull C, CanVIG-UK.   +23 more
europepmc   +1 more source

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Clinical Genetics

Acta geneticae medicae et gemellologiae, 1961
The Committee of the Xth International Congress of Genetics had the excellent idea of acquainting the public of Montreal, Canada, with the practical utility of Genetics by organising a Public Exhibition under the slogan of: “Genetics in the Service of Man”. If we were to choose a slogan that would best summarise our work at this Conference,
openaire   +2 more sources