Results 301 to 310 of about 2,431,050 (332)

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

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China. [PDF]

Front Pediatr
Lai G, Gu Q, Lai Z, Chen H, Chen J, Huang J.   +5 more
europepmc   +1 more source

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection. [PDF]

Am J Hum Genet
Kingsmore SF, Wright M, Smith LD, Liang Y, Mowrey WR, Protopsaltis L, Bainbridge M, Baker M, Batalov S, Blincow E, Cao B, Caylor S, Chambers C, Ellsworth K, Feigenbaum A, Frise E, Guidugli L, Hall KP, Hansen C, Kiel M, Van Der Kraan L, Krilow C, Kwon H, Madhavrao L, Lefebvre S, Leipzig J, Mardach R, Moore B, Oh D, Olsen L, Ontiveros E, Owen MJ, Reimers R, Scharer G, Schleit J, Shelnutt S, Mehtalia SS, Oriol A, Sanford E, Schwartz S, Wigby K, Willis MJ, Yandell M, Kunard CM, Defay T.   +44 more
europepmc   +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

Mitochondrial diseases: genetics

BioFactors, 1998
According to the now widely-accepted endosymbiont hypothesis, mitochondria are the descendents of a bacterium that was “captured” early in evolution by a proto-eukaryote. Accordingly, this organelle is about the size of a bacterium (i.e., between 1–10 microns), and has many bacteria-like features.
E A, Schon, M H, Grossman
openaire   +2 more sources

Genetic diseases

Clinical Chemistry and Laboratory Medicine (CCLM)
Genetic diseases are a group of diseases caused by abnormalities in the human genetic material. This article discusses the main types of genetic diseases, their causes, mechanisms of development and possible consequences. Attention is also paid to modern methods of diagnostics and treatment of genetic diseases, as well as problems of genetic ...
openaire   +3 more sources

Genetics of Dupuytren's disease

Joint Bone Spine, 2012
Dupuytren's disease (DD) is a progressive fibrosis of the palmar fascia characterized by the formation of a nodule, which evolves into a cord. DD is the most common hereditary disease of the connective tissue preferentially affecting Caucasoids originating from Northern Europe.
Michou, Laëtitia, Lermusiaux, Jean-Luc, Teyssedou, Jean-Pierre, Bardin, Thomas, Beaudreuil, Johann, Petit-Teixeira, Elisabeth   +5 more
openaire   +2 more sources