Results 261 to 270 of about 1,395,753 (295)

RaMBat: Accurate identification of medulloblastoma subtypes from diverse data sources with severe batch effects

Molecular Oncology, EarlyView.
To integrate multiple transcriptomics data with severe batch effects for identifying MB subtypes, we developed a novel and accurate computational method named RaMBat, which leveraged subtype‐specific gene expression ranking information instead of absolute gene expression levels to address batch effects of diverse data sources.
Mengtao Sun, Jieqiong Wang, Shibiao Wan
wiley   +1 more source

Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases. [PDF]

PLoS One
Badonyi M, Marsh JA.
europepmc   +1 more source

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project. [PDF]

Lancet Reg Health West Pac
Lam WKJ, Lau CS, Luk HM, Au LWC, Chan GCP, Chan WYH, Cheng SSW, Cheng THT, Cheung LL, Cheung YF, Chong JSC, Chu ATW, Chung CCY, Chung KL, Fung CW, Fung ELW, Gao Y, Ho S, Hue SPY, Lee CH, Lee TL, Li PH, Lo HM, Man Lo IF, Loong HHF, Ma BM, Ma W, Pang SYY, Seto WK, Siu SWK, So H, Tam YH, Tang W, Wong RMS, Yap DYH, Yau MLY, Chung BHY, Lo SV, Hong Kong Genome Project.   +38 more
europepmc   +1 more source

Gene and cell therapy of human genetic diseases: Recent advances and future directions. [PDF]

J Cell Mol Med
Cetin B, Erendor F, Eksi YE, Sanlioglu AD, Sanlioglu S.   +4 more
europepmc   +1 more source

Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden. [PDF]

Hum Genomics
Yousef NA, ElHarouni AA, Shaik NA, Banaganapalli B, Al Ghamdi AF, Galal AH, Alahmadi TS, Shuaib T, Aljeaid D, Alshaer DS, Almutadares M, Elango R.   +11 more
europepmc   +1 more source

El acceso y uso de las pruebas genéticas para la detección precoz de enfermedades congénitas en mujeres embarazadas en la Ciudad Autónoma de Buenos Aires en el año 2017 \ The access and use of genetic tests for early detection of congenital diseases in pregnant women in the Autonomous City of Buenos Aires in the year 2017

, 2017
Anna Bauer
openalex   +1 more source

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Genetic renal disease

Current Opinion in Pediatrics, 1998
Many genetic renal disease now have specific genetic definitions, allowing prognostication. Several glomerular basement membrane defects include Alport's syndrome and benign familial hematurias. Genetic tubular or interstitial structural defects likely include familial juvenile nephronophthisis, as well as the polycystic diseases.
P, Saborio, J, Scheinman
openaire   +2 more sources

Genetic Immunodeficiency Diseases

Advances in Dermatology, 2007
The approach to the patient with genetic immunodeficiency is multidisciplinary, and requires close interaction between the primary care physician, immunologist, and other specialists. Dermatologists may play a key role in both the diagnosis of immunodeficiency based on recurrent infection or specific cutaneous abnormalities and in the management of ...
Melissa, Abrams, Amy, Paller
openaire   +2 more sources