Results 221 to 230 of about 16,795 (294)

New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication. [PDF]

Reports (MDPI)
Furuta Y, Nelson ET, Tinker RJ, Grochowsky AR.   +3 more
europepmc   +1 more source

Nephronophthisis-associated ciliopathy within Sensenbrenner's syndrome: clinical report and literature review

Svetlana Papizh, A.V. Topchiy, Т. В. Маркова, Tatyana Nagornova   +3 more
openalex   +2 more sources

Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes) [PDF]

, 2017
et al,, Montague, Michael J
core   +1 more source

Foxn3 is required to suppress aberrant ciliogenesis in nonphotoreceptor retinal neurons. [PDF]

Proc Natl Acad Sci U S A
Liu S, Chen J, Chen H, Guo Y, Yuan F, Xiao D, Xiang M.   +6 more
europepmc   +1 more source

Erratum to "Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease" [<i>Kidney International Reports</i> Volume 10, Issue 4, April 2025, Pages 1196-1204]. [PDF]

Kidney Int Rep
Serrano B, Savige J.
europepmc   +1 more source

Advances in high-resolution imaging of centrioles and cilia. [PDF]

J Cell Sci
Mercey O, Brunet M, Guichard P, Hamel V.
europepmc   +1 more source

Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease. [PDF]

Kidney Int Rep
Serrano B, Savige J.
europepmc   +1 more source

Multifaceted Primary Ciliary Dyskinesia-A Case Report. [PDF]

Reports (MDPI)
Yahya D, Benkova-Petrova M, Petrov A, Hachmeriyan M.   +3 more
europepmc   +1 more source

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome. [PDF]

Hum Genomics
García-Bohórquez B, Marín-Reina P, Aller E, Barberán-Martínez P, Armengot M, Llorens-Salvador R, Almor-Palacios IC, Millán JM, García-García G.   +8 more
europepmc   +1 more source

Knockdowns of axonemal proteins in Xenopus laevis cause unexpected transcriptional defects [PDF]

, 2014
Coe, Alex
core   +2 more sources