Results 71 to 80 of about 1,394 (123)

[Microcephalic osteodysplastic primordial dwarfism type II (MOPD II): clinical case]. [PDF]

Probl Endokrinol (Mosk)
Makretskaya NA, Kalinchenko NY, Tiulpakov AN.   +2 more
europepmc   +1 more source

A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia. [PDF]

PLoS One
Mäkeläinen S, Ekman S, Hytönen MK, Lohi H, Kyöstilä K, Simon T, Andersson G, Hedhammar Å, Hansson K, Bergström TF.   +9 more
europepmc   +1 more source

Genotype-phenotype correlations in PSACH/EDM1 patients with <i>COMP</i> gene variants: a comprehensive review of 830 cases. [PDF]

Front Endocrinol (Lausanne)
Ni X, Wei L, Xia W, Wu D.
europepmc   +1 more source

Dyggve-Melchior-Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder. [PDF]

Genes (Basel)
Reyes-Silva C, Gallardo-Vizuete J, Guzmán-Acán J, Jaramillo-Koupermann G, Cabrera-Andrade A.   +4 more
europepmc   +1 more source

Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid. [PDF]

Calcif Tissue Int
Meng L, Hu J, Sun L, Zhang Q, Wang O, Jiang Y, Xing X, Xia W, Li M.   +8 more
europepmc   +1 more source

Stüve-Wiedemann syndrome with a novel variant in the LIFR gene: A case report. [PDF]

Medicine (Baltimore)
Sherbiny HS, Alfaifi JA, Ahmed AO, Hassan H, Abdullah R, Alsuwat SA, Al-Juaid RM, Neyaz AA, Oshi MAM, Kamal NM.   +9 more
europepmc   +1 more source

Re: Propofol in Triple Trouble Kearns-Sayre Syndrome, Dyggve-Melchior-Clausen Syndrome, and Chromosome-9 Inversion. [PDF]

Sultan Qaboos Univ Med J
Mehri S, Zarrouk S, Finsterer J.
europepmc   +1 more source

Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports. [PDF]

Int J Mol Sci
Piwar H, Ordak M, Bujalska-Zadrozny M.
europepmc   +1 more source

Expanded phenotypes and pathogenesis of geleophysic dysplasia 3 resulted from a de novo LTBP3 mutation: A case report. [PDF]

Medicine (Baltimore)
Liang J, Han Y, Tao H, Wang X, Zhang B, Wu J, Zhai J.   +6 more
europepmc   +1 more source

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia. [PDF]

Int J Mol Sci
Gorodilova D, Dadali E, Kenis V, Melchenko E, Akimova D, Bulakh M, Orlova A, Orlova M, Shatokhina O, Melnik E, Baud'huin M, Skoblov M, Kutsev S, Markova T.   +13 more
europepmc   +1 more source