Results 101 to 110 of about 7,870 (178)

Rapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed Medullary Cyst Formation. [PDF]

Nephrology (Carlton)
Ito H, Mashiko S, Mizuno S, Kanomata Y, Yano K, Suzuki Y, Sato F, Tajima R, Anan G, Hirose T, Ishiyama K, Mori T.   +11 more
europepmc   +1 more source

A Novel Cell-Cell Communication Structure: Tanycyte and Cilia Hypothalamic Unifying Glia-cilia Structure (HUGS). [PDF]

MicroPubl Biol
Schwantz KR, Boone JG, Brewer KM, Berbari NF.   +3 more
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

A rare cause of neonatal respiratory distress: Jeune syndrome. [PDF]

Radiol Case Rep
El Aouadi S, Bahha S, Taibi O, Bouanane R, Allali N, Chat L, El Haddad S.   +6 more
europepmc   +1 more source

Case series: Joubert syndrome and eosinophilic esophagitis. [PDF]

JPGN Rep
Schening J, Leon-Paredes S, Chiou E, Szafron V, Olive A, Anvari S.   +5 more
europepmc   +1 more source

Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies. [PDF]

J Cell Sci
Bachmann-Gagescu R, Sayer JA.
europepmc   +1 more source

Advances in ciliary proteomics - towards cracking the hidden proteome code of cilia. [PDF]

J Cell Sci
Schermer B, Roepman R, Mick DU.
europepmc   +1 more source

Intraflagellar transport protein IFT172 contains a C-terminal ubiquitin-binding U-box-like domain involved in ciliary signaling. [PDF]

Elife
Zacharia NK, Kuhns S, Boegholm N, Christensen A, Wang J, Petriman NA, Lorentzen A, Fialova JL, Menguy L, Saunier S, Christensen ST, Andersen JS, Bhogaraju S, Lorentzen E.   +13 more
europepmc   +1 more source

Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACA. [PDF]

HGG Adv
Weaver KN, Broeckel JW, Brown K, Wasserman H, Wu J, Neal A, Prada CE, Kleinschmidt NL, Machal EMF, Bertinetti D, Ruiz-Perez VL, Taylor SS, Brugmann SA, Herberg FW.   +13 more
europepmc   +1 more source

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant. [PDF]

Prenat Diagn
Casteleyn T, Vogt M, Weichert A, Zimmer B, Lala B, Henrich W, Königbauer JT.   +6 more
europepmc   +1 more source