Results 121 to 130 of about 4,587 (195)

Bronchiectasis in a child with a homozygous <i>DCDC2</i> gene mutation: A case report. [PDF]

J Taibah Univ Med Sci
AlSaedi KS, Mazi AA.
europepmc   +1 more source

Ten tips for ordering, interpreting, and communicating genetic test results in nephrology. [PDF]

Clin Kidney J
Selvathesan N, Costigan CS, Bahadori A, Lemaire M.   +3 more
europepmc   +1 more source

Nephronophthisis and Retinitis Pigmentosa (Senior-Loken Syndrome) After Living-Donor Kidney Transplantation: Twelve-Year Follow-Up in a Young Woman. [PDF]

J Med Cases
Matsuo T, Onishi Y, Morinaga H, Wada J, Tanaka T, Araki M.   +5 more
europepmc   +1 more source

Juvenile nephronophthisis type Ⅰ：a case report and literature review

Linchuang shenzangbing zazhi
Qian Chan, Mao Zhi-yan, Li Shu-fen, Wang Fei-yan   +3 more
doaj   +3 more sources

A novel mutation of IFT140 in a preschool child with Mainzer-Saldino syndrome accompanied by rare tumor blastic plasmacytoid dendritic cell neoplasm: a case report. [PDF]

BMC Pediatr
Hu R, Li J, Yang F, Jiang M.
europepmc   +1 more source

NEK8, a NIMA-family protein kinase at the core of the ciliary INV complex. [PDF]

Cell Commun Signal
Roig J.
europepmc   +1 more source

Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China. [PDF]

BMC Nephrol
Zhou C, Xiao Y, Xie H, Wei X, Wang J.
europepmc   +1 more source

Compound heterozygous mutations in CC2D2A cause Meckel-Gruber syndrome: a case report and review of the literature. [PDF]

J Med Case Rep
Liu L, Lv Y, Zhou X.
europepmc   +1 more source

The Evolving Experience and Outcomes of Pediatric Kidney Transplant in Abu Dhabi, UAE (2010-2024). [PDF]

Int J Nephrol
Beyyumi E, Al Dhaheri W, Ahmad N, Zaman MB, Khasawneh EA.   +4 more
europepmc   +1 more source