Results 151 to 160 of about 2,406,008 (205)

Corrigendum: Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases. [PDF]

Front Genet
Ouyang X, Chi D, Zhang Y, Yu T, Zhang Q, Xu L, Zhang VW, Wang B.   +7 more
europepmc   +1 more source

Profile of <i>DHX37</i> gene defects in human genetic diseases: 46,XY disorders of sex development. [PDF]

Front Endocrinol (Lausanne)
Peng H, Peng W, Chen J, Hu K, Zhang Y, Ma Y, Jiang H.   +6 more
europepmc   +1 more source

Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases. [PDF]

Front Genet
Ouyang X, Chi D, Zhang Y, Yu T, Zhang Q, Xu L, Zhang VW, Wang B.   +7 more
europepmc   +1 more source

Screening of Living Kidney Donors for Genetic Diseases: Commentary. [PDF]

Kidney360
Steiner RW.
europepmc   +1 more source

Screening of Living Kidney Donors for Genetic Diseases: PRO. [PDF]

Kidney360
Caliskan Y, Lentine KL.
europepmc   +1 more source

Case series of kidney transplantation in two pediatric recipients with rare genetic diseases and intellectual disability. [PDF]

BMC Pediatr
Mata M, Tabbara MM, Alvarez A, Chandar J, Defreitas M, Ciancio G.   +5 more
europepmc   +1 more source

Screening of Living Kidney Donors for Genetic Diseases: CON. [PDF]

Kidney360
Thomas CP.
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