Results 131 to 140 of about 1,854 (192)

[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

Ontology- and LLM-based data harmonization for federated learning in healthcare. [PDF]

Front Digit Health
Kokash N, Wang L, Gillespie TH, Belloum ASZ, Grosso P, Quinney S, Li L, de Bono B.   +7 more
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

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

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

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

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

SOFT syndrome with kohlschutter-Tonz syndrome.

J Postgrad Med
Mondkar SA, Khadilkar V, Kasegaonkar P, Khadilkar A.   +3 more
europepmc   +1 more source

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Prevalence of lethal osteochondrodysplasias in Denmark

American Journal of Medical Genetics Part A, 1989
AbstractThe point prevalence at birth of lethal osteochondrodysplasias in a subregion of Denmark was estimated by a study of all children born January 1970 through December 1983. Two cases of thanatophoric dysplasia, one case of thanatophoric dysplasia with cloverleaf skull, two cases of micromelic bone dysplasia with cloverleaf skull, two cases of ...
Poul Erik Andersen
exaly   +3 more sources